Author: "Myers, Richard" / Publication Type: Electronic Resources - Searchworks@Jio Institute Digital Library Search Results

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240 results on '"Myers, Richard"'

1. Carrollian Partition Functions and the Flat Limit of AdS

Author: Kraus, Per, Myers, Richard M., Kraus, Per, and Myers, Richard M.
Abstract: The formulation of the S-matrix as a path integral with specified asymptotic boundary conditions naturally leads to the realization of a Carrollian partition function defined on the boundary of Minkowski space. This partition function, specified at past and future null infinity in the case of massless particles, generates Carrollian correlation functions that encode the S-matrix. We explore this connection, including the realization of symmetries, soft theorems arising from large gauge transformations, and the correspondence with standard momentum space amplitudes. This framework is also well-suited for embedding the Minkowski space S-matrix into the AdS/CFT duality in the large radius limit. In particular, we identify the AdS and Carrollian partition functions through a simple map between their respective asymptotic data, establishing a direct correspondence between the actions of symmetries on both sides. Our approach thus provides a coherent framework that ties together various topics extensively studied in recent and past literature., Comment: 59 pages; v2 corrected typos, added discussion of flat space Witten diagrams in section 3
Published: 2024

2. Fine-mapping genomic loci refines bipolar disorder risk genes

Author: Koromina, Maria, Ravi, Ashvin, Panagiotaropoulou, Georgia, Schilder, Brian M., Humphrey, Jack, Braun, Alice, Bidgeli, Tim, Chatzinakos, Chris, Coombes, Brandon, Kim, Jaeyoung, Liu, Xiaoxi, Terao, Chikashi, O'Connell, Kevin S., Adams, Mark, Adolfsson, Rolf, Alda, Martin, Alfredsson, Lars, Andlauer, Till, Andreassen, Ole A., Antoniou, Anastasia, Baune, Bernhard T., Bengesser, Susanne, Biernacka, Joanna, Boehnke, Michael, Bosch, Rosa, Cairns, Murray, Carr, Vaughan J., Casas Brugué, Miquel, Catts, Stanley, Cichon, Sven, Corvin, Aiden, Craddock, Nicholas, Dafnas, Konstantinos, Dalkner, Nina, Dannlowski, Udo, Degenhardt, Franziska, Di Florio, Arianna, Dikeos, Dimitris, Fellendorf, Frederike Tabea, Ferentinos, Panagiotis, Forstner, Andreas Josef, Forty, Liz, Frye, Mark, Fullerton, Janice M., Gawlik, Micha, Gizer, Ian R., Gordon-Smith, Katherine, Green, Melissa J., Grigoroiu-Serbanescu, Maria, Guzman-Parra, José, Hahn, Tim, Henskens, Frans, Hillert, Jan, Jablensky, Assen V., Jones, Lisa, Jones, Ian, Jonsson, Lina, Kelsoe, John R., Kircher, Tilo, Kirov, George, Kittel-Schneider, Sarah, Kogevinas, Manolis, Landén, Mikael, Leboyer, Marion, Lenger, Melanie, Lissowska, Jolanta, Lochner, Christine, Loughland, Carmel, MacIntyre, Donald, Martin, Nicholas G., Maratou, Eirini, Mathews, Carol A., Mayoral, Fermı́n, McElroy, Susan L., McGregor, Nathaniel W., McIntosh, Andrew M., McQuillin, Andrew, Michie, Patricia, Milanova, Vihra, Mitchell, Philip B., Moutsatsou, Paraskevi, Mowry, Bryan, Müller-Myhsok, Bertram, Myers, Richard M., Nenadić, Igor, Nöthen, Markus Maria, O'Donovan, Claire, O'Donovan, Michael, Ophoff, Roel André, Owen, Michael J., Pantelis, Christos, Pato, Carlos, Pato, Michele T., Patrinos, George P., Pawlak, Joanna M., Perlis, Roy H., Porichi, Evgenia, Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Reininghaus, Eva Z., Ribasés, Marta, Rietschel, Marcella, Schall, Ulrich, Schulze, Thomas Gerd, Scott, Laura J., Scott, Rodney J., Serretti, Alessandro, Shannon Weickert, Cynthia, Smoller, Jordan W., Soler Artigas, Marı́a, Stein, Dan J., Streit, Fabian, Toma, Claudio, Tooney, Paul, Vieta, Eduard, Vincent, John B., Waldman, Irwin D., Weickert, Thomas, Witt, Stephanie H., Hong, Kyung Sue, Ikeda, Masashi, Iwata, Nakao, Świątkowska, Beata, Won, Hong-Hee, Edenberg, Howard J., Ripke, Stephan, Raj, Towfique, Coleman, Jonathan R. I., Mullins, Niamh, Koromina, Maria, Ravi, Ashvin, Panagiotaropoulou, Georgia, Schilder, Brian M., Humphrey, Jack, Braun, Alice, Bidgeli, Tim, Chatzinakos, Chris, Coombes, Brandon, Kim, Jaeyoung, Liu, Xiaoxi, Terao, Chikashi, O'Connell, Kevin S., Adams, Mark, Adolfsson, Rolf, Alda, Martin, Alfredsson, Lars, Andlauer, Till, Andreassen, Ole A., Antoniou, Anastasia, Baune, Bernhard T., Bengesser, Susanne, Biernacka, Joanna, Boehnke, Michael, Bosch, Rosa, Cairns, Murray, Carr, Vaughan J., Casas Brugué, Miquel, Catts, Stanley, Cichon, Sven, Corvin, Aiden, Craddock, Nicholas, Dafnas, Konstantinos, Dalkner, Nina, Dannlowski, Udo, Degenhardt, Franziska, Di Florio, Arianna, Dikeos, Dimitris, Fellendorf, Frederike Tabea, Ferentinos, Panagiotis, Forstner, Andreas Josef, Forty, Liz, Frye, Mark, Fullerton, Janice M., Gawlik, Micha, Gizer, Ian R., Gordon-Smith, Katherine, Green, Melissa J., Grigoroiu-Serbanescu, Maria, Guzman-Parra, José, Hahn, Tim, Henskens, Frans, Hillert, Jan, Jablensky, Assen V., Jones, Lisa, Jones, Ian, Jonsson, Lina, Kelsoe, John R., Kircher, Tilo, Kirov, George, Kittel-Schneider, Sarah, Kogevinas, Manolis, Landén, Mikael, Leboyer, Marion, Lenger, Melanie, Lissowska, Jolanta, Lochner, Christine, Loughland, Carmel, MacIntyre, Donald, Martin, Nicholas G., Maratou, Eirini, Mathews, Carol A., Mayoral, Fermı́n, McElroy, Susan L., McGregor, Nathaniel W., McIntosh, Andrew M., McQuillin, Andrew, Michie, Patricia, Milanova, Vihra, Mitchell, Philip B., Moutsatsou, Paraskevi, Mowry, Bryan, Müller-Myhsok, Bertram, Myers, Richard M., Nenadić, Igor, Nöthen, Markus Maria, O'Donovan, Claire, O'Donovan, Michael, Ophoff, Roel André, Owen, Michael J., Pantelis, Christos, Pato, Carlos, Pato, Michele T., Patrinos, George P., Pawlak, Joanna M., Perlis, Roy H., Porichi, Evgenia, Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Reininghaus, Eva Z., Ribasés, Marta, Rietschel, Marcella, Schall, Ulrich, Schulze, Thomas Gerd, Scott, Laura J., Scott, Rodney J., Serretti, Alessandro, Shannon Weickert, Cynthia, Smoller, Jordan W., Soler Artigas, Marı́a, Stein, Dan J., Streit, Fabian, Toma, Claudio, Tooney, Paul, Vieta, Eduard, Vincent, John B., Waldman, Irwin D., Weickert, Thomas, Witt, Stephanie H., Hong, Kyung Sue, Ikeda, Masashi, Iwata, Nakao, Świątkowska, Beata, Won, Hong-Hee, Edenberg, Howard J., Ripke, Stephan, Raj, Towfique, Coleman, Jonathan R. I., and Mullins, Niamh
Abstract: Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 22 likely causal SNPs for BD. We mapped these SNPs to genes, and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci, and results from rare variant exome sequencing in BD. Convergent lines of evidence supported the roles of SCN2A, TRANK1, DCLK3, INSYN2B, SYNE1, THSD7A, CACNA1B, TUBBP5, PLCB3, PRDX5, KCNK4, AP001453.3, TRPT1, FKBP2, DNAJC4, RASGRP1, FURIN, FES, YWHAE, DPH1, GSDMB, MED24, THRA, EEF1A2, and KCNQ2 in BD. These represent promising candidates for functional experiments to understand biological mechanisms and therapeutic potential. Additionally, we demonstrated that fine-mapping effect sizes can improve performance and transferability of BD polygenic risk scores across ancestrally diverse populations, and present a high-throughput fine-mapping pipeline (https://github.com/mkoromina/SAFFARI).
Published: 2024

3. Seven-chain adaptive immune receptor repertoire analysis in rheumatoid arthritis reveals novel features associated with disease and clinically relevant phenotypes

Author: Aterido, Adriá, López-Lasanta, María, Blanco García, Francico J, Juan-Mas, Antonio, García-Vivar, María Luz, Erra, Alba, Pérez-García, Carolina, Sánchez-Fernández, Simón Ángel, Sanmartí, Raimón, Fernández-Nebro, Antonio, Alperi-López, Mercedes, Tornero, Jesús, Ortiz, Ana María, Marras Fernández-Cid, Carlos, Palau, Núria, Pan, Wenjing, Byrne-Steele, Miranda, Starenki, Dmytro, Weber, Daniel, Rodríguez-Nunez, Iván, Han, Jian, Myers, Richard M., Marsal, Sara, Juliá, Antonio, Aterido, Adriá, López-Lasanta, María, Blanco García, Francico J, Juan-Mas, Antonio, García-Vivar, María Luz, Erra, Alba, Pérez-García, Carolina, Sánchez-Fernández, Simón Ángel, Sanmartí, Raimón, Fernández-Nebro, Antonio, Alperi-López, Mercedes, Tornero, Jesús, Ortiz, Ana María, Marras Fernández-Cid, Carlos, Palau, Núria, Pan, Wenjing, Byrne-Steele, Miranda, Starenki, Dmytro, Weber, Daniel, Rodríguez-Nunez, Iván, Han, Jian, Myers, Richard M., Marsal, Sara, and Juliá, Antonio
Published: 2024

4. Genetic algorithms for ambiguous labelling problems

Author: Myers, Richard Oliver
Subjects: 621.3994, Graph matching, Line labelling
Published: 1999

5. S-Matrix Path Integral Approach to Symmetries and Soft Theorems

Author: Kim, Seolhwa, Kraus, Per, Monten, Ruben, Myers, Richard M., Kim, Seolhwa, Kraus, Per, Monten, Ruben, and Myers, Richard M.
Abstract: We explore a formulation of the S-matrix in terms of the path integral with specified asymptotic data, as originally proposed by Arefeva, Faddeev, and Slavnov. In the tree approximation the S-matrix is equal to the exponential of the classical action evaluated on-shell. This formulation is well-suited to questions involving asymptotic symmetries, as it avoids reference to non-gauge/diffeomorphism invariant bulk correlators or sources at intermediate stages. We show that the soft photon theorem, originally derived by Weinberg and more recently connected to asymptotic symmetries by Strominger and collaborators, follows rather simply from invariance of the action under large gauge transformations applied to the asymptotic data. We also show that this formalism allows for efficient computation of the S-matrix in curved spacetime, including particle production due to a time dependent metric., Comment: 38 pages
Published: 2023

6. Systematics of Boundary Actions in Gauge Theory and Gravity

Author: Kim, Seolhwa, Kraus, Per, Myers, Richard M., Kim, Seolhwa, Kraus, Per, and Myers, Richard M.
Abstract: We undertake a general study of the boundary (or edge) modes that arise in gauge and gravitational theories defined on a space with boundary, either asymptotic or at finite distance, focusing on efficient techniques for computing the corresponding boundary action. Such actions capture all the dynamics of the system that are implied by its asymptotic symmetry group, such as correlation functions of the corresponding conserved currents. Working in the covariant phase space formalism, we develop a collection of approaches for isolating the boundary modes and their dynamics, and illustrate with various examples, notably AdS$_3$ gravity (with and without a gravitational Chern-Simons terms) subject to assorted boundary conditions., Comment: 67 pages. v2: references added, typos corrected
Published: 2023
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7. Transplanted ENSCs form functional connections with intestinal smooth muscle and restore colonic motility in nNOS-deficient mice.

Author: Hotta, Ryo, Hotta, Ryo, Rahman, Ahmed, Bhave, Sukhada, Stavely, Rhian, Pan, Weikang, Srinivasan, Shriya, de Couto, Geoffrey, Rodriguez-Borlado, Luis, Myers, Richard, Burns, Alan, Goldstein, Allan, Hotta, Ryo, Hotta, Ryo, Rahman, Ahmed, Bhave, Sukhada, Stavely, Rhian, Pan, Weikang, Srinivasan, Shriya, de Couto, Geoffrey, Rodriguez-Borlado, Luis, Myers, Richard, Burns, Alan, and Goldstein, Allan
Abstract: BACKGROUND: Enteric neuropathies, which result from abnormalities of the enteric nervous system, are associated with significant morbidity and high health-care costs, but current treatments are unsatisfactory. Cell-based therapy offers an innovative approach to replace the absent or abnormal enteric neurons and thereby restore gut function. METHODS: Enteric neuronal stem cells (ENSCs) were isolated from the gastrointestinal tract of Wnt1-Cre;R26tdTomato mice and generated neurospheres (NS). NS transplants were performed via injection into the mid-colon mesenchyme of nNOS-/- mouse, a model of colonic dysmotility, using either 1 (n = 12) or 3 (n = 12) injections (30 NS per injection) targeted longitudinally 1-2 mm apart. Functional outcomes were assessed up to 6 weeks later using electromyography (EMG), electrical field stimulation (EFS), optogenetics, and by measuring colorectal motility. RESULTS: Transplanted ENSCs formed nitrergic neurons in the nNOS-/- recipient colon. Multiple injections of ENSCs resulted in a significantly larger area of coverage compared to single injection alone and were associated with a marked improvement in colonic function, demonstrated by (1) increased colonic muscle activity by EMG recording, (2) faster rectal bead expulsion, and (3) increased fecal pellet output in vivo. Organ bath studies revealed direct neuromuscular communication by optogenetic stimulation of channelrhodopsin-expressing ENSCs and restoration of smooth muscle relaxation in response to EFS. CONCLUSIONS: These results demonstrate that transplanted ENSCs can form effective neuromuscular connections and improve colonic motor function in a model of colonic dysmotility, and additionally reveal that multiple sites of cell delivery led to an improved response, paving the way for optimized clinical trial design.
Published: 2023

8. Neurotransmission-related gene expression in the frontal pole is altered in subjects with bipolar disorder and schizophrenia.

Author: Medina, Adriana M, Medina, Adriana M, Hagenauer, Megan Hastings, Krolewski, David M, Hughes, Evan, Forrester, Liam Cannon Thew, Walsh, David M, Waselus, Maria, Richardson, Evelyn, Turner, Cortney A, Sequeira, P Adolfo, Cartagena, Preston M, Thompson, Robert C, Vawter, Marquis P, Bunney, Blynn G, Myers, Richard M, Barchas, Jack D, Lee, Francis S, Schatzberg, Alan F, Bunney, William E, Akil, Huda, Watson, Stanley J, Medina, Adriana M, Medina, Adriana M, Hagenauer, Megan Hastings, Krolewski, David M, Hughes, Evan, Forrester, Liam Cannon Thew, Walsh, David M, Waselus, Maria, Richardson, Evelyn, Turner, Cortney A, Sequeira, P Adolfo, Cartagena, Preston M, Thompson, Robert C, Vawter, Marquis P, Bunney, Blynn G, Myers, Richard M, Barchas, Jack D, Lee, Francis S, Schatzberg, Alan F, Bunney, William E, Akil, Huda, and Watson, Stanley J
Abstract: The frontal pole (Brodmann area 10, BA10) is the largest cytoarchitectonic region of the human cortex, performing complex integrative functions. BA10 undergoes intensive adolescent grey matter pruning prior to the age of onset for bipolar disorder (BP) and schizophrenia (SCHIZ), and its dysfunction is likely to underly aspects of their shared symptomology. In this study, we investigated the role of BA10 neurotransmission-related gene expression in BP and SCHIZ. We performed qPCR to measure the expression of 115 neurotransmission-related targets in control, BP, and SCHIZ postmortem samples (n = 72). We chose this method for its high sensitivity to detect low-level expression. We then strengthened our findings by performing a meta-analysis of publicly released BA10 microarray data (n = 101) and identified sources of convergence with our qPCR results. To improve interpretation, we leveraged the unusually large database of clinical metadata accompanying our samples to explore the relationship between BA10 gene expression, therapeutics, substances of abuse, and symptom profiles, and validated these findings with publicly available datasets. Using these convergent sources of evidence, we identified 20 neurotransmission-related genes that were differentially expressed in BP and SCHIZ in BA10. These results included a large diagnosis-related decrease in two important therapeutic targets with low levels of expression, HTR2B and DRD4, as well as other findings related to dopaminergic, GABAergic and astrocytic function. We also observed that therapeutics may produce a differential expression that opposes diagnosis effects. In contrast, substances of abuse showed similar effects on BA10 gene expression as BP and SCHIZ, potentially amplifying diagnosis-related dysregulation.
Published: 2023

9. Comparison of the risk of hospitalisation among BA.1 and BA.2 COVID‐19 cases treated with sotrovimab in the community in England

Author: Harman, Katie, Nash, Sophie Grace, Webster, Harriet H., Groves, Natalie, Hardstaff, Jo, Bridgen, Jessica, Blomquist, Paula B., Hope, Russell, Ashano, Efejiro, Myers, Richard, Rokadiya, Sakib, Hopkins, Susan, Brown, Colin S., Chand, Meera, Dabrera, Gavin, Thelwall, Simon, Harman, Katie, Nash, Sophie Grace, Webster, Harriet H., Groves, Natalie, Hardstaff, Jo, Bridgen, Jessica, Blomquist, Paula B., Hope, Russell, Ashano, Efejiro, Myers, Richard, Rokadiya, Sakib, Hopkins, Susan, Brown, Colin S., Chand, Meera, Dabrera, Gavin, and Thelwall, Simon
Abstract: There are concerns that sotrovimab has reduced efficacy at reducing hospitalisation risk against the BA.2 sub-lineage of the Omicron SARS-CoV-2 variant. We performed a retrospective cohort (n = 8850) study of individuals treated with sotrovimab in the community, with the objective of assessing whether there were any differences in risk of hospitalisation of BA.2 cases compared with BA.1. We estimated that the hazard ratio of hospital admission with a length of stay of 2 days or more was 1.17 for BA.2 compared with BA.1 (95%CI 0.74–1.86). These results suggest that the risk of hospital admission was similar between the two sub-lineages.
Published: 2023

10. Transplanted ENSCs form functional connections with intestinal smooth muscle and restore colonic motility in nNOS-deficient mice

Author: Massachusetts Institute of Technology. Department of Mechanical Engineering, Koch Institute for Integrative Cancer Research at MIT, Hotta, Ryo, Rahman, Ahmed, Bhave, Sukhada, Stavely, Rhian, Pan, Weikang, Srinivasan, Shriya, de Couto, Geoffrey, Rodriguez-Borlado, Luis, Myers, Richard, Burns, Alan J., Goldstein, Allan M., Massachusetts Institute of Technology. Department of Mechanical Engineering, Koch Institute for Integrative Cancer Research at MIT, Hotta, Ryo, Rahman, Ahmed, Bhave, Sukhada, Stavely, Rhian, Pan, Weikang, Srinivasan, Shriya, de Couto, Geoffrey, Rodriguez-Borlado, Luis, Myers, Richard, Burns, Alan J., and Goldstein, Allan M.
Abstract: Background Enteric neuropathies, which result from abnormalities of the enteric nervous system, are associated with significant morbidity and high health-care costs, but current treatments are unsatisfactory. Cell-based therapy offers an innovative approach to replace the absent or abnormal enteric neurons and thereby restore gut function. Methods Enteric neuronal stem cells (ENSCs) were isolated from the gastrointestinal tract of Wnt1-Cre;R26tdTomato mice and generated neurospheres (NS). NS transplants were performed via injection into the mid-colon mesenchyme of nNOS−/− mouse, a model of colonic dysmotility, using either 1 (n = 12) or 3 (n = 12) injections (30 NS per injection) targeted longitudinally 1–2 mm apart. Functional outcomes were assessed up to 6 weeks later using electromyography (EMG), electrical field stimulation (EFS), optogenetics, and by measuring colorectal motility. Results Transplanted ENSCs formed nitrergic neurons in the nNOS−/− recipient colon. Multiple injections of ENSCs resulted in a significantly larger area of coverage compared to single injection alone and were associated with a marked improvement in colonic function, demonstrated by (1) increased colonic muscle activity by EMG recording, (2) faster rectal bead expulsion, and (3) increased fecal pellet output in vivo. Organ bath studies revealed direct neuromuscular communication by optogenetic stimulation of channelrhodopsin-expressing ENSCs and restoration of smooth muscle relaxation in response to EFS. Conclusions These results demonstrate that transplanted ENSCs can form effective neuromuscular connections and improve colonic motor function in a model of colonic dysmotility, and additionally reveal that multiple sites of cell delivery led to an improved response, paving the way for optimized clinical trial design.
Published: 2023

11. The James Webb Space Telescope Mission

Author: Gardner, Jonathan P., Mather, John C., Abbott, Randy, Abell, James S., Abernathy, Mark, Abney, Faith E., Abraham, John G., Abraham, Roberto, Abul-Huda, Yasin M., Acton, Scott, Adams, Cynthia K., Adams, Evan, Adler, David S., Adriaensen, Maarten, Aguilar, Jonathan Albert, Ahmed, Mansoor, Ahmed, Nasif S., Ahmed, Tanjira, Albat, Rüdeger, Albert, Loïc, Alberts, Stacey, Aldridge, David, Allen, Mary Marsha, Allen, Shaune S., Altenburg, Martin, Altunc, Serhat, Alvarez, Jose Lorenzo, Álvarez-Márquez, Javier, Oliveira, Catarina Alves de, Ambrose, Leslie L., Anandakrishnan, Satya M., Andersen, Gregory C., Anderson, Harry James, Anderson, Jay, Anderson, Kristen, Anderson, Sara M., Aprea, Julio, Archer, Benita J., Arenberg, Jonathan W., Argyriou, Ioannis, Arribas, Santiago, Artigau, Étienne, Arvai, Amanda Rose, Atcheson, Paul, Atkinson, Charles B., Averbukh, Jesse, Aymergen, Cagatay, Bacinski, John J., Baggett, Wayne E., Bagnasco, Giorgio, Baker, Lynn L., Balzano, Vicki Ann, Banks, Kimberly A., Baran, David A., Barker, Elizabeth A., Barrett, Larry K., Barringer, Bruce O., Barto, Allison, Bast, William, Baudoz, Pierre, Baum, Stefi, Beatty, Thomas G., Beaulieu, Mathilde, Bechtold, Kathryn, Beck, Tracy, Beddard, Megan M., Beichman, Charles, Bellagama, Larry, Bely, Pierre, Berger, Timothy W., Bergeron, Louis E., Bernier, Antoine-Darveau, Bertch, Maria D., Beskow, Charlotte, Betz, Laura E., Biagetti, Carl P., Birkmann, Stephan, Bjorklund, Kurt F., Blackwood, James D., Blazek, Ronald Paul, Blossfeld, Stephen, Bluth, Marcel, Boccaletti, Anthony, Jr, Martin E. Boegner, Bohlin, Ralph C., Boia, John Joseph, Böker, Torsten, Bonaventura, N., Bond, Nicholas A., Bosley, Kari Ann, Boucarut, Rene A., Bouchet, Patrice, Bouwman, Jeroen, Bower, Gary, Bowers, Ariel S., Bowers, Charles W., Boyce, Leslye A., Boyer, Christine T., Boyer, Martha L., Boyer, Michael, Boyer, Robert, Bradley, Larry D., Brady, Gregory R., Brandl, Bernhard R., Brannen, Judith L., Breda, David, Bremmer, Harold G., Brennan, David, Bresnahan, Pamela A., Bright, Stacey N., Broiles, Brian J., Bromenschenkel, Asa, Brooks, Brian H., Brooks, Keira J., Brown, Bob, Brown, Bruce, Brown, Thomas M., Bruce, Barry W., Bryson, Jonathan G., Bujanda, Edwin D., Bullock, Blake M., Bunker, A. J., Bureo, Rafael, Burt, Irving J., Bush, James Aaron, Bushouse, Howard A., Bussman, Marie C., Cabaud, Olivier, Cale, Steven, Calhoon, Charles D., Calvani, Humberto, Canipe, Alicia M., Caputo, Francis M., Cara, Mihai, Carey, Larkin, Case, Michael Eli, Cesari, Thaddeus, Cetorelli, Lee D., Chance, Don R., Chandler, Lynn, Chaney, Dave, Chapman, George N., Charlot, S., Chayer, Pierre, Cheezum, Jeffrey I., Chen, Bin, Chen, Christine H., Cherinka, Brian, Chichester, Sarah C., Chilton, Zachary S., Chittiraibalan, Dharini, Clampin, Mark, Clark, Charles R., Clark, Kerry W., Clark, Stephanie M., Claybrooks, Edward E., Cleveland, Keith A., Cohen, Andrew L., Cohen, Lester M., Colón, Knicole D., Coleman, Benee L., Colina, Luis, Comber, Brian J., Comeau, Thomas M., Comer, Thomas, Reis, Alain Conde, Connolly, Dennis C., Conroy, Kyle E., Contos, Adam R., Contreras, James, Cook, Neil J., Cooper, James L., Cooper, Rachel Aviva, Correia, Michael F., Correnti, Matteo, Cossou, Christophe, Costanza, Brian F., Coulais, Alain, Cox, Colin R., Coyle, Ray T., Cracraft, Misty M., Crew, Keith A., Curtis, Gary J., Cusveller, Bianca, Maciel, Cleyciane Da Costa, Dailey, Christopher T., Daugeron, Frédéric, Davidson, Greg S., Davies, James E., Davis, Katherine Anne, Davis, Michael S., Day, Ratna, Chambure, Daniel de, Jong, Pauline de, Marchi, Guido De, Dean, Bruce H., Decker, John E., Delisa, Amy S., Dell, Lawrence C., Dellagatta, Gail, Dembinska, Franciszka, Demosthenes, Sandor, Dencheva, Nadezhda M., Deneu, Philippe, DePriest, William W., Deschenes, Jeremy, Dethienne, Nathalie, Detre, Örs Hunor, Diaz, Rosa Izela, Dicken, Daniel, DiFelice, Audrey S., Dillman, Matthew, Disharoon, Maureen O., Dixon, William V., Doggett, Jesse B., Dominguez, Keisha L., Donaldson, Thomas S., Doria-Warner, Cristina M., Santos, Tony Dos, Doty, Heather, Robert E. Douglas, Jr, Doyon, René, Dressler, Alan, Driggers, Jennifer, Driggers, Phillip A., Dunn, Jamie L., DuPrie, Kimberly C., Dupuis, Jean, Durning, John, Dutta, Sanghamitra B., Earl, Nicholas M., Eccleston, Paul, Ecobichon, Pascal, Egami, Eiichi, Ehrenwinkler, Ralf, Eisenhamer, Jonathan D., Eisenhower, Michael, Eisenstein, Daniel J., Hamel, Zaky El, Elie, Michelle L., Elliott, James, Elliott, Kyle Wesley, Engesser, Michael, Espinoza, Néstor, Etienne, Odessa, Etxaluze, Mireya, Evans, Leah, Fabreguettes, Luce, Falcolini, Massimo, Falini, Patrick R., Fatig, Curtis, Feeney, Matthew, Feinberg, Lee D., Fels, Raymond, Ferdous, Nazma, Ferguson, Henry C., Ferrarese, Laura, Ferreira, Marie-Héléne, Ferruit, Pierre, Ferry, Malcolm, Filippazzo, Joseph Charles, Firre, Daniel, Fix, Mees, Flagey, Nicolas, Flanagan, Kathryn A., Fleming, Scott W., Florian, Michael, Flynn, James R., Foiadelli, Luca, Fontaine, Mark R., Fontanella, Erin Marie, Forshay, Peter Randolph, Fortner, Elizabeth A., Fox, Ori D., Framarini, Alexandro P., Francisco, John I., Franck, Randy, Franx, Marijn, Franz, David E., Friedman, Scott D., Friend, Katheryn E., Frost, James R., Fu, Henry, Fullerton, Alexander W., Gaillard, Lionel, Galkin, Sergey, Gallagher, Ben, Galyer, Anthony D., Marín, Macarena García, Gardner, Lisa E., Garland, Dennis, Garrett, Bruce Albert, Gasman, Danny, Gáspár, András, Gastaud, René, Gaudreau, Daniel, Gauthier, Peter Timothy, Geers, Vincent, Geithner, Paul H., Gennaro, Mario, Gerber, John, Gereau, John C., Giampaoli, Robert, Giardino, Giovanna, Gibbons, Paul C., Gilbert, Karoline, Gilman, Larry, Girard, Julien H., Giuliano, Mark E., Gkountis, Konstantinos, Glasse, Alistair, Glassmire, Kirk Zachary, Glauser, Adrian Michael, Glazer, Stuart D., Goldberg, Joshua, Golimowski, David A., Gonzaga, Shireen P., Gordon, Karl D., Gordon, Shawn J., Goudfrooij, Paul, Gough, Michael J., Graham, Adrian J., Grau, Christopher M., Green, Joel David, Greene, Gretchen R., Greene, Thomas P., Greenfield, Perry E., Greenhouse, Matthew A., Greve, Thomas R., Greville, Edgar M., Grimaldi, Stefano, Groe, Frank E., Groebner, Andrew, Grumm, David M., Grundy, Timothy, Güdel, Manuel, Guillard, Pierre, Guldalian, John, Gunn, Christopher A., Gurule, Anthony, Gutman, Irvin Meyer, Guy, Paul D., Guyot, Benjamin, Hack, Warren J., Haderlein, Peter, Hagan, James B., Hagedorn, Andria, Hainline, Kevin, Haley, Craig, Hami, Maryam, Hamilton, Forrest Clifford, Hammann, Jeffrey, Hammel, Heidi B., Hanley, Christopher J., Hansen, Carl August, Hardy, Bruce, Harnisch, Bernd, Harr, Michael Hunter, Harris, Pamela, Hart, Jessica Ann, Hartig, George F., Hasan, Hashima, Hashim, Kathleen Marie, Hashimoto, Ryan, Haskins, Sujee J., Hawkins, Robert Edward, Hayden, Brian, Hayden, William L., Healy, Mike, Hecht, Karen, Heeg, Vince J., Hejal, Reem, Helm, Kristopher A., Hengemihle, Nicholas J., Henning, Thomas, Henry, Alaina, Henry, Ronald L., Henshaw, Katherine, Hernandez, Scarlin, Herrington, Donald C., Heske, Astrid, Hesman, Brigette Emily, Hickey, David L., Hilbert, Bryan N., Hines, Dean C., Hinz, Michael R., Hirsch, Michael, Hitcho, Robert S., Hodapp, Klaus, Hodge, Philip E., Hoffman, Melissa, Holfeltz, Sherie T., Holler, Bryan Jason, Hoppa, Jennifer Rose, Horner, Scott, Howard, Joseph M., Howard, Richard J., Huber, Jean M., Hunkeler, Joseph S., Hunter, Alexander, Hunter, David Gavin, Hurd, Spencer W., Hurst, Brendan J., Hutchings, John B., Hylan, Jason E., Ignat, Luminita Ilinca, Illingworth, Garth, Irish, Sandra M., Iii, John C. Isaacs, Jr, Wallace C. Jackson, Jaffe, Daniel T., Jahic, Jasmin, Jahromi, Amir, Jakobsen, Peter, James, Bryan, James, John C., James, LeAndrea Rae, Jamieson, William Brian, Jandra, Raymond D., Jayawardhana, Ray, Jedrzejewski, Robert, Jeffers, Basil S., Jensen, Peter, Joanne, Egges, Johns, Alan T., Johnson, Carl A., Johnson, Eric L., Johnson, Patricia, Johnson, Phillip Stephen, Johnson, Thomas K., Johnson, Timothy W., Johnstone, Doug, Jollet, Delphine, Jones, Danny P., Jones, Gregory S., Jones, Olivia C., Jones, Ronald A., Jones, Vicki, Jordan, Ian J., Jordan, Margaret E., Jue, Reginald, Jurkowski, Mark H., Justis, Grant, Justtanont, Kay, Kaleida, Catherine C., Kalirai, Jason S., Kalmanson, Phillip Cabrales, Kaltenegger, Lisa, Kammerer, Jens, Kan, Samuel K., Kanarek, Graham Childs, Kao, Shaw-Hong, Karakla, Diane M., Karl, Hermann, Kassin, Susan A., Kauffman, David D., Kavanagh, Patrick, Kelley, Leigh L., Kelly, Douglas M., Kendrew, Sarah, Kennedy, Herbert V., Kenny, Deborah A., Keski-Kuha, Ritva A., Keyes, Charles D., Khan, Ali, Kidwell, Richard C., Kimble, Randy A., King, James S., King, Richard C., Kinzel, Wayne M., Kirk, Jeffrey R., Kirkpatrick, Marc E., Klaassen, Pamela, Klingemann, Lana, Klintworth, Paul U., Knapp, Bryan Adam, Knight, Scott, Knollenberg, Perry J., Knutsen, Daniel Mark, Koehler, Robert, Koekemoer, Anton M., Kofler, Earl T., Kontson, Vicki L., Kovacs, Aiden Rose, Kozhurina-Platais, Vera, Krause, Oliver, Kriss, Gerard A., Krist, John, Kristoffersen, Monica R., Krogel, Claudia, Krueger, Anthony P., Kulp, Bernard A., Kumari, Nimisha, Kwan, Sandy W., Kyprianou, Mark, Labador, Aurora Gadiano, Labiano, Álvaro, Lafrenière, David, Lagage, Pierre-Olivier, Laidler, Victoria G., Laine, Benoit, Laird, Simon, Lajoie, Charles-Philippe, Lallo, Matthew D., Lam, May Yen, LaMassa, Stephanie Marie, Lambros, Scott D., Lampenfield, Richard Joseph, Lander, Matthew Ed, Langston, James Hutton, Larson, Kirsten, Larson, Melora, LaVerghetta, Robert Joseph, Law, David R., Lawrence, Jon F., Lee, David W., Lee, Janice, Lee, Yat-Ning Paul, Leisenring, Jarron, Leveille, Michael Dunlap, Levenson, Nancy A., Levi, Joshua S., Levine, Marie B., Lewis, Dan, Lewis, Jake, Lewis, Nikole, Libralato, Mattia, Lidon, Norbert, Liebrecht, Paula Louisa, Lightsey, Paul, Lilly, Simon, Lim, Frederick C., Lim, Pey Lian, Ling, Sai-Kwong, Link, Lisa J., Link, Miranda Nicole, Lipinski, Jamie L., Liu, XiaoLi, Lo, Amy S., Lobmeyer, Lynette, Logue, Ryan M., Long, Chris A., Long, Douglas R., Long, Ilana D., Long, Knox S., López-Caniego, Marcos, Lotz, Jennifer M., Love-Pruitt, Jennifer M., Lubskiy, Michael, Luers, Edward B., Luetgens, Robert A., Luevano, Annetta J., Lui, Sarah Marie G. Flores, Iii, James M. Lund, Lundquist, Ray A., Lunine, Jonathan, Lützgendorf, Nora, Lynch, Richard J., MacDonald, Alex J., MacDonald, Kenneth, Macias, Matthew J., Macklis, Keith I., Maghami, Peiman, Maharaja, Rishabh Y., Maiolino, Roberto, Makrygiannis, Konstantinos G., Malla, Sunita Giri, Malumuth, Eliot M., Manjavacas, Elena, Marini, Andrea, Marrione, Amanda, Marston, Anthony, Martel, André R, Martin, Didier, Martin, Peter G., Martinez, Kristin L., Maschmann, Marc, Masci, Gregory L., Masetti, Margaret E., Maszkiewicz, Michael, Matthews, Gary, Matuskey, Jacob E., McBrayer, Glen A., McCarthy, Donald W., McCaughrean, Mark J., McClare, Leslie A., McClare, Michael D., McCloskey, John C., McClurg, Taylore D., McCoy, Martin, McElwain, Michael W., McGregor, Roy D., McGuffey, Douglas B., McKay, Andrew G., McKenzie, William K., McLean, Brian, McMaster, Matthew, McNeil, Warren, Meester, Wim De, Mehalick, Kimberly L., Meixner, Margaret, Meléndez, Marcio, Menzel, Michael P., Menzel, Michael T., Merz, Matthew, Mesterharm, David D., Meyer, Michael R., Meyett, Michele L., Meza, Luis E., Midwinter, Calvin, Milam, Stefanie N., Miller, Jay Todd, Miller, William C., Miskey, Cherie L., Misselt, Karl, Mitchell, Eileen P., Mohan, Martin, Montoya, Emily E., Moran, Michael J., Morishita, Takahiro, Moro-Martín, Amaya, Morrison, Debra L., Morrison, Jane, Morse, Ernie C., Moschos, Michael, Moseley, S. H., Mosier, Gary E., Mosner, Peter, Mountain, Matt, Muckenthaler, Jason S., Mueller, Donald G., Mueller, Migo, Muhiem, Daniella, Mühlmann, Prisca, Mullally, Susan Elizabeth, Mullen, Stephanie M., Munger, Alan J, Murphy, Jess, Murray, Katherine T., Muzerolle, James C., Mycroft, Matthew, Myers, Andrew, Myers, Carey R., Myers, Fred Richard R., Myers, Richard, Myrick, Kaila, Adrian F. Nagle, IV, Nayak, Omnarayani, Naylor, Bret, Neff, Susan G., Nelan, Edmund P., Nella, John, Nguyen, Duy Tuong, Nguyen, Michael N., Nickson, Bryony, Nidhiry, John Joseph, Niedner, Malcolm B., Nieto-Santisteban, Maria, Nikolov, Nikolay K., Nishisaka, Mary Ann, Noriega-Crespo, Alberto, Nota, Antonella, O’Mara, Robyn C., Oboryshko, Michael, O’Brien, Marcus B., Ochs, William R., Offenberg, Joel D., Ogle, Patrick Michael, Ohl, Raymond G., Olmsted, Joseph Hamden, Osborne, Shannon Barbara, O’Shaughnessy, Brian Patrick, Östlin, Göran, O’Sullivan, Brian, Otor, O. Justin, Ottens, Richard, Ouellette, Nathalie N.-Q., Outlaw, Daria J., Owens, Beverly A., Pacifici, Camilla, Page, James Christophe, Paranilam, James G., Park, Sang, Parrish, Keith A., Paschal, Laura, Patapis, Polychronis, Patel, Jignasha, Patrick, Keith, Jr, Robert A. Pattishall, Paul, Douglas William, Paul, Shirley J., Pauly, Tyler Andrew, Pavlovsky, Cheryl M., Peña-Guerrero, Maria, Pedder, Andrew H., Peek, Matthew Weldon, Pelham, Patricia A., Penanen, Konstantin, Perriello, Beth A., Perrin, Marshall D., Perrine, Richard F., Perrygo, Chuck, Peslier, Muriel, Petach, Michael, Peterson, Karla A., Pfarr, Tom, Pierson, James M., Pietraszkiewicz, Martin, Pilchen, Guy, Pipher, Judy L., Pirzkal, Norbert, Pitman, Joseph T., Player, Danielle M., Plesha, Rachel, Plitzke, Anja, Pohner, John A., Poletis, Karyn Konstantin, Pollizzi, Joseph A., Polster, Ethan, Pontius, James T., Pontoppidan, Klaus, Porges, Susana C., Potter, Gregg D., Prescott, Stephen, Proffitt, Charles R., Pueyo, Laurent, Neira, Irma Aracely Quispe, Radich, Armando, Rager, Reiko T., Rameau, Julien, Ramey, Deborah D., Alarcon, Rafael Ramos, Rampini, Riccardo, Rapp, Robert, Rashford, Robert A., Rauscher, Bernard J., Ravindranath, Swara, Rawle, Timothy, Rawlings, Tynika N., Ray, Tom, Regan, Michael W., Rehm, Brian, Rehm, Kenneth D., Reid, Neill, Reis, Carl A., Renk, Florian, Reoch, Tom B., Ressler, Michael, Rest, Armin W., Reynolds, Paul J., Richon, Joel G., Richon, Karen V., Ridgaway, Michael, Riedel, Adric Richard, Rieke, George H., Rieke, Marcia J., Rifelli, Richard E., Rigby, Jane R., Riggs, Catherine S., Ringel, Nancy J., Ritchie, Christine E., Rix, Hans-Walter, Robberto, Massimo, Robinson, Gregory L., Robinson, Michael S., Robinson, Orion, Rock, Frank W., Rodriguez, David R., Pino, Bruno Rodríguez del, Roellig, Thomas, Rohrbach, Scott O., Roman, Anthony J., Romelfanger, Frederick J., Jr, Felipe P. Romo, Rosales, Jose J., Rose, Perry, Roteliuk, Anthony F., Roth, Marc N., Rothwell, Braden Quinn, Rouzaud, Sylvain, Rowe, Jason, Rowlands, Neil, Roy, Arpita, Royer, Pierre, Rui, Chunlei, Rumler, Peter, Rumpl, William, Russ, Melissa L., Ryan, Michael B., Ryan, Richard M., Saad, Karl, Sabata, Modhumita, Sabatino, Rick, Sabbi, Elena, Sabelhaus, Phillip A., Sabia, Stephen, Sahu, Kailash C., Saif, Babak N., Salvignol, Jean-Christophe, Samara-Ratna, Piyal, Samuelson, Bridget S., Sanders, Felicia A., Sappington, Bradley, Sargent, B. A., Sauer, Arne, Savadkin, Bruce J., Sawicki, Marcin, Schappell, Tina M., Scheffer, Caroline, Scheithauer, Silvia, Scherer, Ron, Schiff, Conrad, Schlawin, Everett, Schmeitzky, Olivier, Schmitz, Tyler S., Schmude, Donald J., Schneider, Analyn, Schreiber, Jürgen, Schroeven-Deceuninck, Hilde, Schultz, John J., Schwab, Ryan, Schwartz, Curtis H., Scoccimarro, Dario, Scott, John F., Scott, Michelle B., Seaton, Bonita L., Seely, Bruce S., Seery, Bernard, Seidleck, Mark, Sembach, Kenneth, Shanahan, Clare Elizabeth, Shaughnessy, Bryan, Shaw, Richard A., Shay, Christopher Michael, Sheehan, Even, Sheth, Kartik, Shih, Hsin-Yi, Shivaei, Irene, Siegel, Noah, Sienkiewicz, Matthew G., Simmons, Debra D., Simon, Bernard P., Sirianni, Marco, Sivaramakrishnan, Anand, Slade, Jeffrey E., Sloan, G. 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M., Tikkanen, Tuomo, Tinnin, Lee, Tippet, William Thomas, Todd, Connor William, Tran, Hien D., Trauger, John, Trejo, Edwin Gregorio, Truong, Justin Hoang Vinh, Tsukamoto, Christine L., Tufail, Yasir, Tumlinson, Jason, Tustain, Samuel, Tyra, Harrison, Ubeda, Leonardo, Underwood, Kelli, Uzzo, Michael A., Vaclavik, Steven, Valenduc, Frida, Valenti, Jeff A., Campen, Julie Van, Wetering, Inge van de, Marel, Roeland P. Van Der, Haarlem, Remy van, Vandenbussche, Bart, Dishoeck, Ewine F. van, Vanterpool, Dona D., Vernoy, Michael R., Costas, Maria Begoña Vila, Volk, Kevin, Voorzaat, Piet, Voyton, Mark F., Vydra, Ekaterina, Waddy, Darryl J., Waelkens, Christoffel, Wahlgren, Glenn Michael, Jr, Frederick E. Walker, Wander, Michel, Warfield, Christine K., Warner, Gerald, Wasiak, Francis C., Wasiak, Matthew F., Wehner, James, Weiler, Kevin R., Weilert, Mark, Weiss, Stanley B., Wells, Martyn, Welty, Alan D., Wheate, Lauren, Wheeler, Thomas P., White, Christy L., Whitehouse, Paul, Whiteleather, Jennifer Margaret, Whitman, William Russell, Williams, Christina C., Willmer, Christopher N. A., Willott, Chris J., Willoughby, Scott P., Wilson, Andrew, Wilson, Debra, Wilson, Donna V., Windhorst, Rogier, Wislowski, Emily Christine, Wolfe, David J., Wolfe, Michael A., Wolff, Schuyler, Wondel, Amancio, Woo, Cindy, Woods, Robert T., Worden, Elaine, Workman, William, Wright, Gillian S., Wu, Carl, Wu, Chi-Rai, Wun, Dakin D., Wymer, Kristen B., Yadetie, Thomas, Yan, Isabelle C., Yang, Keith C., Yates, Kayla L., Yeager, Christopher R., Yerger, Ethan John, Young, Erick T., Young, Gary, Yu, Gene, Yu, Susan, Zak, Dean S., Zeidler, Peter, Zepp, Robert, Zhou, Julia, Zincke, Christian A., Zonak, Stephanie, Zondag, Elisabeth, Gardner, Jonathan P., Mather, John C., Abbott, Randy, Abell, James S., Abernathy, Mark, Abney, Faith E., Abraham, John G., Abraham, Roberto, Abul-Huda, Yasin M., Acton, Scott, Adams, Cynthia K., Adams, Evan, Adler, David S., Adriaensen, Maarten, Aguilar, Jonathan Albert, Ahmed, Mansoor, Ahmed, Nasif S., Ahmed, Tanjira, Albat, Rüdeger, Albert, Loïc, Alberts, Stacey, Aldridge, David, Allen, Mary Marsha, Allen, Shaune S., Altenburg, Martin, Altunc, Serhat, Alvarez, Jose Lorenzo, Álvarez-Márquez, Javier, Oliveira, Catarina Alves de, Ambrose, Leslie L., Anandakrishnan, Satya M., Andersen, Gregory C., Anderson, Harry James, Anderson, Jay, Anderson, Kristen, Anderson, Sara M., Aprea, Julio, Archer, Benita J., Arenberg, Jonathan W., Argyriou, Ioannis, Arribas, Santiago, Artigau, Étienne, Arvai, Amanda Rose, Atcheson, Paul, Atkinson, Charles B., Averbukh, Jesse, Aymergen, Cagatay, Bacinski, John J., Baggett, Wayne E., Bagnasco, Giorgio, Baker, Lynn L., Balzano, Vicki Ann, Banks, Kimberly A., Baran, David A., Barker, Elizabeth A., Barrett, Larry K., Barringer, Bruce O., Barto, Allison, Bast, William, Baudoz, Pierre, Baum, Stefi, Beatty, Thomas G., Beaulieu, Mathilde, Bechtold, Kathryn, Beck, Tracy, Beddard, Megan M., Beichman, Charles, Bellagama, Larry, Bely, Pierre, Berger, Timothy W., Bergeron, Louis E., Bernier, Antoine-Darveau, Bertch, Maria D., Beskow, Charlotte, Betz, Laura E., Biagetti, Carl P., Birkmann, Stephan, Bjorklund, Kurt F., Blackwood, James D., Blazek, Ronald Paul, Blossfeld, Stephen, Bluth, Marcel, Boccaletti, Anthony, Jr, Martin E. 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Douglas, Jr, Doyon, René, Dressler, Alan, Driggers, Jennifer, Driggers, Phillip A., Dunn, Jamie L., DuPrie, Kimberly C., Dupuis, Jean, Durning, John, Dutta, Sanghamitra B., Earl, Nicholas M., Eccleston, Paul, Ecobichon, Pascal, Egami, Eiichi, Ehrenwinkler, Ralf, Eisenhamer, Jonathan D., Eisenhower, Michael, Eisenstein, Daniel J., Hamel, Zaky El, Elie, Michelle L., Elliott, James, Elliott, Kyle Wesley, Engesser, Michael, Espinoza, Néstor, Etienne, Odessa, Etxaluze, Mireya, Evans, Leah, Fabreguettes, Luce, Falcolini, Massimo, Falini, Patrick R., Fatig, Curtis, Feeney, Matthew, Feinberg, Lee D., Fels, Raymond, Ferdous, Nazma, Ferguson, Henry C., Ferrarese, Laura, Ferreira, Marie-Héléne, Ferruit, Pierre, Ferry, Malcolm, Filippazzo, Joseph Charles, Firre, Daniel, Fix, Mees, Flagey, Nicolas, Flanagan, Kathryn A., Fleming, Scott W., Florian, Michael, Flynn, James R., Foiadelli, Luca, Fontaine, Mark R., Fontanella, Erin Marie, Forshay, Peter Randolph, Fortner, Elizabeth A., Fox, Ori D., Framarini, Alexandro P., Francisco, John I., Franck, Randy, Franx, Marijn, Franz, David E., Friedman, Scott D., Friend, Katheryn E., Frost, James R., Fu, Henry, Fullerton, Alexander W., Gaillard, Lionel, Galkin, Sergey, Gallagher, Ben, Galyer, Anthony D., Marín, Macarena García, Gardner, Lisa E., Garland, Dennis, Garrett, Bruce Albert, Gasman, Danny, Gáspár, András, Gastaud, René, Gaudreau, Daniel, Gauthier, Peter Timothy, Geers, Vincent, Geithner, Paul H., Gennaro, Mario, Gerber, John, Gereau, John C., Giampaoli, Robert, Giardino, Giovanna, Gibbons, Paul C., Gilbert, Karoline, Gilman, Larry, Girard, Julien H., Giuliano, Mark E., Gkountis, Konstantinos, Glasse, Alistair, Glassmire, Kirk Zachary, Glauser, Adrian Michael, Glazer, Stuart D., Goldberg, Joshua, Golimowski, David A., Gonzaga, Shireen P., Gordon, Karl D., Gordon, Shawn J., Goudfrooij, Paul, Gough, Michael J., Graham, Adrian J., Grau, Christopher M., Green, Joel David, Greene, Gretchen R., Greene, Thomas P., Greenfield, Perry E., Greenhouse, Matthew A., Greve, Thomas R., Greville, Edgar M., Grimaldi, Stefano, Groe, Frank E., Groebner, Andrew, Grumm, David M., Grundy, Timothy, Güdel, Manuel, Guillard, Pierre, Guldalian, John, Gunn, Christopher A., Gurule, Anthony, Gutman, Irvin Meyer, Guy, Paul D., Guyot, Benjamin, Hack, Warren J., Haderlein, Peter, Hagan, James B., Hagedorn, Andria, Hainline, Kevin, Haley, Craig, Hami, Maryam, Hamilton, Forrest Clifford, Hammann, Jeffrey, Hammel, Heidi B., Hanley, Christopher J., Hansen, Carl August, Hardy, Bruce, Harnisch, Bernd, Harr, Michael Hunter, Harris, Pamela, Hart, Jessica Ann, Hartig, George F., Hasan, Hashima, Hashim, Kathleen Marie, Hashimoto, Ryan, Haskins, Sujee J., Hawkins, Robert Edward, Hayden, Brian, Hayden, William L., Healy, Mike, Hecht, Karen, Heeg, Vince J., Hejal, Reem, Helm, Kristopher A., Hengemihle, Nicholas J., Henning, Thomas, Henry, Alaina, Henry, Ronald L., Henshaw, Katherine, Hernandez, Scarlin, Herrington, Donald C., Heske, Astrid, Hesman, Brigette Emily, Hickey, David L., Hilbert, Bryan N., Hines, Dean C., Hinz, Michael R., Hirsch, Michael, Hitcho, Robert S., Hodapp, Klaus, Hodge, Philip E., Hoffman, Melissa, Holfeltz, Sherie T., Holler, Bryan Jason, Hoppa, Jennifer Rose, Horner, Scott, Howard, Joseph M., Howard, Richard J., Huber, Jean M., Hunkeler, Joseph S., Hunter, Alexander, Hunter, David Gavin, Hurd, Spencer W., Hurst, Brendan J., Hutchings, John B., Hylan, Jason E., Ignat, Luminita Ilinca, Illingworth, Garth, Irish, Sandra M., Iii, John C. Isaacs, Jr, Wallace C. Jackson, Jaffe, Daniel T., Jahic, Jasmin, Jahromi, Amir, Jakobsen, Peter, James, Bryan, James, John C., James, LeAndrea Rae, Jamieson, William Brian, Jandra, Raymond D., Jayawardhana, Ray, Jedrzejewski, Robert, Jeffers, Basil S., Jensen, Peter, Joanne, Egges, Johns, Alan T., Johnson, Carl A., Johnson, Eric L., Johnson, Patricia, Johnson, Phillip Stephen, Johnson, Thomas K., Johnson, Timothy W., Johnstone, Doug, Jollet, Delphine, Jones, Danny P., Jones, Gregory S., Jones, Olivia C., Jones, Ronald A., Jones, Vicki, Jordan, Ian J., Jordan, Margaret E., Jue, Reginald, Jurkowski, Mark H., Justis, Grant, Justtanont, Kay, Kaleida, Catherine C., Kalirai, Jason S., Kalmanson, Phillip Cabrales, Kaltenegger, Lisa, Kammerer, Jens, Kan, Samuel K., Kanarek, Graham Childs, Kao, Shaw-Hong, Karakla, Diane M., Karl, Hermann, Kassin, Susan A., Kauffman, David D., Kavanagh, Patrick, Kelley, Leigh L., Kelly, Douglas M., Kendrew, Sarah, Kennedy, Herbert V., Kenny, Deborah A., Keski-Kuha, Ritva A., Keyes, Charles D., Khan, Ali, Kidwell, Richard C., Kimble, Randy A., King, James S., King, Richard C., Kinzel, Wayne M., Kirk, Jeffrey R., Kirkpatrick, Marc E., Klaassen, Pamela, Klingemann, Lana, Klintworth, Paul U., Knapp, Bryan Adam, Knight, Scott, Knollenberg, Perry J., Knutsen, Daniel Mark, Koehler, Robert, Koekemoer, Anton M., Kofler, Earl T., Kontson, Vicki L., Kovacs, Aiden Rose, Kozhurina-Platais, Vera, Krause, Oliver, Kriss, Gerard A., Krist, John, Kristoffersen, Monica R., Krogel, Claudia, Krueger, Anthony P., Kulp, Bernard A., Kumari, Nimisha, Kwan, Sandy W., Kyprianou, Mark, Labador, Aurora Gadiano, Labiano, Álvaro, Lafrenière, David, Lagage, Pierre-Olivier, Laidler, Victoria G., Laine, Benoit, Laird, Simon, Lajoie, Charles-Philippe, Lallo, Matthew D., Lam, May Yen, LaMassa, Stephanie Marie, Lambros, Scott D., Lampenfield, Richard Joseph, Lander, Matthew Ed, Langston, James Hutton, Larson, Kirsten, Larson, Melora, LaVerghetta, Robert Joseph, Law, David R., Lawrence, Jon F., Lee, David W., Lee, Janice, Lee, Yat-Ning Paul, Leisenring, Jarron, Leveille, Michael Dunlap, Levenson, Nancy A., Levi, Joshua S., Levine, Marie B., Lewis, Dan, Lewis, Jake, Lewis, Nikole, Libralato, Mattia, Lidon, Norbert, Liebrecht, Paula Louisa, Lightsey, Paul, Lilly, Simon, Lim, Frederick C., Lim, Pey Lian, Ling, Sai-Kwong, Link, Lisa J., Link, Miranda Nicole, Lipinski, Jamie L., Liu, XiaoLi, Lo, Amy S., Lobmeyer, Lynette, Logue, Ryan M., Long, Chris A., Long, Douglas R., Long, Ilana D., Long, Knox S., López-Caniego, Marcos, Lotz, Jennifer M., Love-Pruitt, Jennifer M., Lubskiy, Michael, Luers, Edward B., Luetgens, Robert A., Luevano, Annetta J., Lui, Sarah Marie G. Flores, Iii, James M. Lund, Lundquist, Ray A., Lunine, Jonathan, Lützgendorf, Nora, Lynch, Richard J., MacDonald, Alex J., MacDonald, Kenneth, Macias, Matthew J., Macklis, Keith I., Maghami, Peiman, Maharaja, Rishabh Y., Maiolino, Roberto, Makrygiannis, Konstantinos G., Malla, Sunita Giri, Malumuth, Eliot M., Manjavacas, Elena, Marini, Andrea, Marrione, Amanda, Marston, Anthony, Martel, André R, Martin, Didier, Martin, Peter G., Martinez, Kristin L., Maschmann, Marc, Masci, Gregory L., Masetti, Margaret E., Maszkiewicz, Michael, Matthews, Gary, Matuskey, Jacob E., McBrayer, Glen A., McCarthy, Donald W., McCaughrean, Mark J., McClare, Leslie A., McClare, Michael D., McCloskey, John C., McClurg, Taylore D., McCoy, Martin, McElwain, Michael W., McGregor, Roy D., McGuffey, Douglas B., McKay, Andrew G., McKenzie, William K., McLean, Brian, McMaster, Matthew, McNeil, Warren, Meester, Wim De, Mehalick, Kimberly L., Meixner, Margaret, Meléndez, Marcio, Menzel, Michael P., Menzel, Michael T., Merz, Matthew, Mesterharm, David D., Meyer, Michael R., Meyett, Michele L., Meza, Luis E., Midwinter, Calvin, Milam, Stefanie N., Miller, Jay Todd, Miller, William C., Miskey, Cherie L., Misselt, Karl, Mitchell, Eileen P., Mohan, Martin, Montoya, Emily E., Moran, Michael J., Morishita, Takahiro, Moro-Martín, Amaya, Morrison, Debra L., Morrison, Jane, Morse, Ernie C., Moschos, Michael, Moseley, S. H., Mosier, Gary E., Mosner, Peter, Mountain, Matt, Muckenthaler, Jason S., Mueller, Donald G., Mueller, Migo, Muhiem, Daniella, Mühlmann, Prisca, Mullally, Susan Elizabeth, Mullen, Stephanie M., Munger, Alan J, Murphy, Jess, Murray, Katherine T., Muzerolle, James C., Mycroft, Matthew, Myers, Andrew, Myers, Carey R., Myers, Fred Richard R., Myers, Richard, Myrick, Kaila, Adrian F. Nagle, IV, Nayak, Omnarayani, Naylor, Bret, Neff, Susan G., Nelan, Edmund P., Nella, John, Nguyen, Duy Tuong, Nguyen, Michael N., Nickson, Bryony, Nidhiry, John Joseph, Niedner, Malcolm B., Nieto-Santisteban, Maria, Nikolov, Nikolay K., Nishisaka, Mary Ann, Noriega-Crespo, Alberto, Nota, Antonella, O’Mara, Robyn C., Oboryshko, Michael, O’Brien, Marcus B., Ochs, William R., Offenberg, Joel D., Ogle, Patrick Michael, Ohl, Raymond G., Olmsted, Joseph Hamden, Osborne, Shannon Barbara, O’Shaughnessy, Brian Patrick, Östlin, Göran, O’Sullivan, Brian, Otor, O. Justin, Ottens, Richard, Ouellette, Nathalie N.-Q., Outlaw, Daria J., Owens, Beverly A., Pacifici, Camilla, Page, James Christophe, Paranilam, James G., Park, Sang, Parrish, Keith A., Paschal, Laura, Patapis, Polychronis, Patel, Jignasha, Patrick, Keith, Jr, Robert A. Pattishall, Paul, Douglas William, Paul, Shirley J., Pauly, Tyler Andrew, Pavlovsky, Cheryl M., Peña-Guerrero, Maria, Pedder, Andrew H., Peek, Matthew Weldon, Pelham, Patricia A., Penanen, Konstantin, Perriello, Beth A., Perrin, Marshall D., Perrine, Richard F., Perrygo, Chuck, Peslier, Muriel, Petach, Michael, Peterson, Karla A., Pfarr, Tom, Pierson, James M., Pietraszkiewicz, Martin, Pilchen, Guy, Pipher, Judy L., Pirzkal, Norbert, Pitman, Joseph T., Player, Danielle M., Plesha, Rachel, Plitzke, Anja, Pohner, John A., Poletis, Karyn Konstantin, Pollizzi, Joseph A., Polster, Ethan, Pontius, James T., Pontoppidan, Klaus, Porges, Susana C., Potter, Gregg D., Prescott, Stephen, Proffitt, Charles R., Pueyo, Laurent, Neira, Irma Aracely Quispe, Radich, Armando, Rager, Reiko T., Rameau, Julien, Ramey, Deborah D., Alarcon, Rafael Ramos, Rampini, Riccardo, Rapp, Robert, Rashford, Robert A., Rauscher, Bernard J., Ravindranath, Swara, Rawle, Timothy, Rawlings, Tynika N., Ray, Tom, Regan, Michael W., Rehm, Brian, Rehm, Kenneth D., Reid, Neill, Reis, Carl A., Renk, Florian, Reoch, Tom B., Ressler, Michael, Rest, Armin W., Reynolds, Paul J., Richon, Joel G., Richon, Karen V., Ridgaway, Michael, Riedel, Adric Richard, Rieke, George H., Rieke, Marcia J., Rifelli, Richard E., Rigby, Jane R., Riggs, Catherine S., Ringel, Nancy J., Ritchie, Christine E., Rix, Hans-Walter, Robberto, Massimo, Robinson, Gregory L., Robinson, Michael S., Robinson, Orion, Rock, Frank W., Rodriguez, David R., Pino, Bruno Rodríguez del, Roellig, Thomas, Rohrbach, Scott O., Roman, Anthony J., Romelfanger, Frederick J., Jr, Felipe P. Romo, Rosales, Jose J., Rose, Perry, Roteliuk, Anthony F., Roth, Marc N., Rothwell, Braden Quinn, Rouzaud, Sylvain, Rowe, Jason, Rowlands, Neil, Roy, Arpita, Royer, Pierre, Rui, Chunlei, Rumler, Peter, Rumpl, William, Russ, Melissa L., Ryan, Michael B., Ryan, Richard M., Saad, Karl, Sabata, Modhumita, Sabatino, Rick, Sabbi, Elena, Sabelhaus, Phillip A., Sabia, Stephen, Sahu, Kailash C., Saif, Babak N., Salvignol, Jean-Christophe, Samara-Ratna, Piyal, Samuelson, Bridget S., Sanders, Felicia A., Sappington, Bradley, Sargent, B. A., Sauer, Arne, Savadkin, Bruce J., Sawicki, Marcin, Schappell, Tina M., Scheffer, Caroline, Scheithauer, Silvia, Scherer, Ron, Schiff, Conrad, Schlawin, Everett, Schmeitzky, Olivier, Schmitz, Tyler S., Schmude, Donald J., Schneider, Analyn, Schreiber, Jürgen, Schroeven-Deceuninck, Hilde, Schultz, John J., Schwab, Ryan, Schwartz, Curtis H., Scoccimarro, Dario, Scott, John F., Scott, Michelle B., Seaton, Bonita L., Seely, Bruce S., Seery, Bernard, Seidleck, Mark, Sembach, Kenneth, Shanahan, Clare Elizabeth, Shaughnessy, Bryan, Shaw, Richard A., Shay, Christopher Michael, Sheehan, Even, Sheth, Kartik, Shih, Hsin-Yi, Shivaei, Irene, Siegel, Noah, Sienkiewicz, Matthew G., Simmons, Debra D., Simon, Bernard P., Sirianni, Marco, Sivaramakrishnan, Anand, Slade, Jeffrey E., Sloan, G. C., Slocum, Christine E., Slowinski, Steven E., Smith, Corbett T., Smith, Eric P., Smith, Erin C., Smith, Koby, Smith, Robert, Smith, Stephanie J., Smolik, John L., Soderblom, David R., Sohn, Sangmo Tony, Sokol, Jeff, Sonneborn, George, Sontag, Christopher D., Sooy, Peter R., Soummer, Remi, Southwood, Dana M., Spain, Kay, Sparmo, Joseph, Speer, David T., Spencer, Richard, Sprofera, Joseph D., Stallcup, Scott S., Stanley, Marcia K., Stansberry, John A., Stark, Christopher C., Starr, Carl W., Stassi, Diane Y., Steck, Jane A., Steeley, Christine D., Stephens, Matthew A., Stephenson, Ralph J., Stewart, Alphonso C., Stiavelli, Massimo, Jr, Hervey Stockman, Strada, Paolo, Straughn, Amber N., Streetman, Scott, Strickland, David Kendal, Strobele, Jingping F., Stuhlinger, Martin, Stys, Jeffrey Edward, Such, Miguel, Sukhatme, Kalyani, Sullivan, Joseph F., Sullivan, Pamela C., Sumner, Sandra M., Sun, Fengwu, Sunnquist, Benjamin Dale, Swade, Daryl Allen, Swam, Michael S., Swenton, Diane F., Swoish, Robby A., Litten, Oi In Tam, Tamas, Laszlo, Tao, Andrew, Taylor, David K., Taylor, Joanna M., Plate, Maurice te, Tea, Mason Van, Teague, Kelly K., Telfer, Randal C., Temim, Tea, Texter, Scott C., Thatte, Deepashri G., Thompson, Christopher Lee, Thompson, Linda M., Thomson, Shaun R., Thronson, Harley, Tierney, C. M., Tikkanen, Tuomo, Tinnin, Lee, Tippet, William Thomas, Todd, Connor William, Tran, Hien D., Trauger, John, Trejo, Edwin Gregorio, Truong, Justin Hoang Vinh, Tsukamoto, Christine L., Tufail, Yasir, Tumlinson, Jason, Tustain, Samuel, Tyra, Harrison, Ubeda, Leonardo, Underwood, Kelli, Uzzo, Michael A., Vaclavik, Steven, Valenduc, Frida, Valenti, Jeff A., Campen, Julie Van, Wetering, Inge van de, Marel, Roeland P. Van Der, Haarlem, Remy van, Vandenbussche, Bart, Dishoeck, Ewine F. van, Vanterpool, Dona D., Vernoy, Michael R., Costas, Maria Begoña Vila, Volk, Kevin, Voorzaat, Piet, Voyton, Mark F., Vydra, Ekaterina, Waddy, Darryl J., Waelkens, Christoffel, Wahlgren, Glenn Michael, Jr, Frederick E. Walker, Wander, Michel, Warfield, Christine K., Warner, Gerald, Wasiak, Francis C., Wasiak, Matthew F., Wehner, James, Weiler, Kevin R., Weilert, Mark, Weiss, Stanley B., Wells, Martyn, Welty, Alan D., Wheate, Lauren, Wheeler, Thomas P., White, Christy L., Whitehouse, Paul, Whiteleather, Jennifer Margaret, Whitman, William Russell, Williams, Christina C., Willmer, Christopher N. A., Willott, Chris J., Willoughby, Scott P., Wilson, Andrew, Wilson, Debra, Wilson, Donna V., Windhorst, Rogier, Wislowski, Emily Christine, Wolfe, David J., Wolfe, Michael A., Wolff, Schuyler, Wondel, Amancio, Woo, Cindy, Woods, Robert T., Worden, Elaine, Workman, William, Wright, Gillian S., Wu, Carl, Wu, Chi-Rai, Wun, Dakin D., Wymer, Kristen B., Yadetie, Thomas, Yan, Isabelle C., Yang, Keith C., Yates, Kayla L., Yeager, Christopher R., Yerger, Ethan John, Young, Erick T., Young, Gary, Yu, Gene, Yu, Susan, Zak, Dean S., Zeidler, Peter, Zepp, Robert, Zhou, Julia, Zincke, Christian A., Zonak, Stephanie, and Zondag, Elisabeth
Abstract: Twenty-six years ago a small committee report, building on earlier studies, expounded a compelling and poetic vision for the future of astronomy, calling for an infrared-optimized space telescope with an aperture of at least 4 m. With the support of their governments in the US, Europe, and Canada, 20,000 people realized that vision as the 6.5 m James Webb Space Telescope. A generation of astronomers will celebrate their accomplishments for the life of the mission, potentially as long as 20 yr, and beyond. This report and the scientific discoveries that follow are extended thank-you notes to the 20,000 team members. The telescope is working perfectly, with much better image quality than expected. In this and accompanying papers, we give a brief history, describe the observatory, outline its objectives and current observing program, and discuss the inventions and people who made it possible. We cite detailed reports on the design and the measured performance on orbit.
Published: 2023

12. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models.

Author: Rozowsky, Joel, Rozowsky, Joel, Gao, Jiahao, Borsari, Beatrice, Yang, Yucheng, Galeev, Timur, Gürsoy, Gamze, Epstein, Charles, Xiong, Kun, Xu, Jinrui, Li, Tianxiao, Liu, Jason, Yu, Keyang, Berthel, Ana, Chen, Zhanlin, Navarro, Fabio, Sun, Maxwell, Wright, James, Chang, Justin, Cameron, Christopher, Shoresh, Noam, Gaskell, Elizabeth, Drenkow, Jorg, Adrian, Jessika, Aganezov, Sergey, Aguet, François, Balderrama-Gutierrez, Gabriela, Banskota, Samridhi, Corona, Guillermo, Chee, Sora, Chhetri, Surya, Cortez Martins, Gabriel, Danyko, Cassidy, Davis, Carrie, Farid, Daniel, Farrell, Nina, Gabdank, Idan, Gofin, Yoel, Gorkin, David, Gu, Mengting, Hecht, Vivian, Hitz, Benjamin, Issner, Robbyn, Jiang, Yunzhe, Kirsche, Melanie, Kong, Xiangmeng, Lam, Bonita, Li, Shantao, Li, Bian, Li, Xiqi, Lin, Khine, Luo, Ruibang, Mackiewicz, Mark, Meng, Ran, Moore, Jill, Mudge, Jonathan, Nelson, Nicholas, Nusbaum, Chad, Popov, Ioann, Pratt, Henry, Qiu, Yunjiang, Ramakrishnan, Srividya, Raymond, Joe, Salichos, Leonidas, Scavelli, Alexandra, Schreiber, Jacob, Sedlazeck, Fritz, See, Lei, Sherman, Rachel, Shi, Xu, Shi, Minyi, Sloan, Cricket, Strattan, J, Tan, Zhen, Tanaka, Forrest, Vlasova, Anna, Wang, Jun, Werner, Jonathan, Williams, Brian, Xu, Min, Yan, Chengfei, Yu, Lu, Zaleski, Christopher, Zhang, Jing, Ardlie, Kristin, Cherry, J, Mendenhall, Eric, Noble, William, Weng, Zhiping, Levine, Morgan, Dobin, Alexander, Wold, Barbara, Mortazavi, Ali, Ren, Bing, Gillis, Jesse, Myers, Richard, Choudhary, Jyoti, Milosavljevic, Aleksandar, Schatz, Michael, Bernstein, Bradley, Guigó, Roderic, Rozowsky, Joel, Rozowsky, Joel, Gao, Jiahao, Borsari, Beatrice, Yang, Yucheng, Galeev, Timur, Gürsoy, Gamze, Epstein, Charles, Xiong, Kun, Xu, Jinrui, Li, Tianxiao, Liu, Jason, Yu, Keyang, Berthel, Ana, Chen, Zhanlin, Navarro, Fabio, Sun, Maxwell, Wright, James, Chang, Justin, Cameron, Christopher, Shoresh, Noam, Gaskell, Elizabeth, Drenkow, Jorg, Adrian, Jessika, Aganezov, Sergey, Aguet, François, Balderrama-Gutierrez, Gabriela, Banskota, Samridhi, Corona, Guillermo, Chee, Sora, Chhetri, Surya, Cortez Martins, Gabriel, Danyko, Cassidy, Davis, Carrie, Farid, Daniel, Farrell, Nina, Gabdank, Idan, Gofin, Yoel, Gorkin, David, Gu, Mengting, Hecht, Vivian, Hitz, Benjamin, Issner, Robbyn, Jiang, Yunzhe, Kirsche, Melanie, Kong, Xiangmeng, Lam, Bonita, Li, Shantao, Li, Bian, Li, Xiqi, Lin, Khine, Luo, Ruibang, Mackiewicz, Mark, Meng, Ran, Moore, Jill, Mudge, Jonathan, Nelson, Nicholas, Nusbaum, Chad, Popov, Ioann, Pratt, Henry, Qiu, Yunjiang, Ramakrishnan, Srividya, Raymond, Joe, Salichos, Leonidas, Scavelli, Alexandra, Schreiber, Jacob, Sedlazeck, Fritz, See, Lei, Sherman, Rachel, Shi, Xu, Shi, Minyi, Sloan, Cricket, Strattan, J, Tan, Zhen, Tanaka, Forrest, Vlasova, Anna, Wang, Jun, Werner, Jonathan, Williams, Brian, Xu, Min, Yan, Chengfei, Yu, Lu, Zaleski, Christopher, Zhang, Jing, Ardlie, Kristin, Cherry, J, Mendenhall, Eric, Noble, William, Weng, Zhiping, Levine, Morgan, Dobin, Alexander, Wold, Barbara, Mortazavi, Ali, Ren, Bing, Gillis, Jesse, Myers, Richard, Choudhary, Jyoti, Milosavljevic, Aleksandar, Schatz, Michael, Bernstein, Bradley, and Guigó, Roderic
Abstract: Understanding how genetic variants impact molecular phenotypes is a key goal of functional genomics, currently hindered by reliance on a single haploid reference genome. Here, we present the EN-TEx resource of 1,635 open-access datasets from four donors (∼30 tissues × ∼15 assays). The datasets are mapped to matched, diploid genomes with long-read phasing and structural variants, instantiating a catalog of >1 million allele-specific loci. These loci exhibit coordinated activity along haplotypes and are less conserved than corresponding, non-allele-specific ones. Surprisingly, a deep-learning transformer model can predict the allele-specific activity based only on local nucleotide-sequence context, highlighting the importance of transcription-factor-binding motifs particularly sensitive to variants. Furthermore, combining EN-TEx with existing genome annotations reveals strong associations between allele-specific and GWAS loci. It also enables models for transferring known eQTLs to difficult-to-profile tissues (e.g., from skin to heart). Overall, EN-TEx provides rich data and generalizable models for more accurate personal functional genomics.
Published: 2023

13. Field Theory of Interacting Boundary Gravitons

Author: Ebert, Stephen, Hijano, Eliot, Kraus, Per, Monten, Ruben, Myers, Richard M., Ebert, Stephen, Hijano, Eliot, Kraus, Per, Monten, Ruben, and Myers, Richard M.
Abstract: Pure three-dimensional gravity is a renormalizable theory with two free parameters labelled by $G$ and $\Lambda$. As a consequence, correlation functions of the boundary stress tensor in AdS$_3$ are uniquely fixed in terms of one dimensionless parameter, which is the central charge of the Virasoro algebra. The same argument implies that AdS$_3$ gravity at a finite radial cutoff is a renormalizable theory, but now with one additional parameter corresponding to the cutoff location. This theory is conjecturally dual to a $T\overline{T}$-deformed CFT, assuming that such theories actually exist. To elucidate this, we study the quantum theory of boundary gravitons living on a cutoff planar boundary and the associated correlation functions of the boundary stress tensor. We compute stress tensor correlation functions to two-loop order ($G$ being the loop counting parameter), extending existing tree level results. This is made feasible by the fact that the boundary graviton action simplifies greatly upon making a judicious field redefinition, turning into the Nambu-Goto action. After imposing Lorentz invariance, the correlators at this order are found to be unambiguous up to a single undetermined renormalization parameter., Comment: 71 pages, 1 figure, typos corrected and clarifications added in response to the referees' questions
Published: 2022
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14. Common Genetic Variation and Age of Onset of Anorexia Nervosa

Author: Watson, Hunna J., Thornton, Laura M., Yilmaz, Zeynep, Baker, Jessica H., Coleman, Jonathan R.I., Adan, Roger A.H., Alfredsson, Lars, Andreassen, Ole A., Ask, Helga, Berrettini, Wade H., Boehnke, Michael, Boehm, Ilka, Boni, Claudette, Buehren, Katharina, Bulant, Josef, Burghardt, Roland, Chang, Xiao, Cichon, Sven, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., de Zwaan, Martina, Dedoussis, George, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian, Djurovic, Srdjan, Dmitrzak-Weglarz, Monika, Docampo-Martinez, Elisa, Duriez, Philibert, Egberts, Karin, Ehrlich, Stefan, Eriksson, Johan G., Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Fernández-Aranda, Fernando, Fichter, Manfred M., Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Frei, Oleksandr, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacòs, Mònica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hauser, Joanna, Havdahl, Alexandra, Hebebrand, Johannes, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Hübel, Christopher, Hudson, James I., Imgart, Hartmut, Jamain, Stephanie, Janout, Vladimir, Jiménez-Murcia, Susana, Jones, Ian R., Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Kas, Martien J.H., Keel, Pamela K., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Klareskog, Lars, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Leboyer, Marion, Li, Dong, Lilenfeld, Lisa, Lin, Bochao, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen S., Monteleone, Alessio Maria, Monteleone, Palmiero, Myers, Richard, Navratilova, Marie, Ntalla, Ionna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Pantel, Jacques, Papežová, Hana, Pinto, Dalila, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Scott, Laura J., Seitz, Jochen, Silén, Yasmina, Šlachtová, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A., van Furth, Eric F., Walton, Esther, Widen, Elisabeth, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James E., Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thomas, Whiteman, David C., Woodside, D. Blake, Gordon, Scott, Maguire, Sarah, Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin, Wade, Tracey D., Birgegård, Andreas, Lichtenstein, Paul, Landén, Mikael, Martin, Nicholas G., Mortensen, Preben Bo, Breen, Gerome, Bulik, Cynthia M., Watson, Hunna J., Thornton, Laura M., Yilmaz, Zeynep, Baker, Jessica H., Coleman, Jonathan R.I., Adan, Roger A.H., Alfredsson, Lars, Andreassen, Ole A., Ask, Helga, Berrettini, Wade H., Boehnke, Michael, Boehm, Ilka, Boni, Claudette, Buehren, Katharina, Bulant, Josef, Burghardt, Roland, Chang, Xiao, Cichon, Sven, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., de Zwaan, Martina, Dedoussis, George, DeSocio, Janiece E., Dick, Danielle M., Dikeos, Dimitris, Dina, Christian, Djurovic, Srdjan, Dmitrzak-Weglarz, Monika, Docampo-Martinez, Elisa, Duriez, Philibert, Egberts, Karin, Ehrlich, Stefan, Eriksson, Johan G., Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Fernández-Aranda, Fernando, Fichter, Manfred M., Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Frei, Oleksandr, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragiskos, Gorwood, Philip, Gratacòs, Mònica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hauser, Joanna, Havdahl, Alexandra, Hebebrand, Johannes, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Hübel, Christopher, Hudson, James I., Imgart, Hartmut, Jamain, Stephanie, Janout, Vladimir, Jiménez-Murcia, Susana, Jones, Ian R., Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Kas, Martien J.H., Keel, Pamela K., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Klareskog, Lars, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Leboyer, Marion, Li, Dong, Lilenfeld, Lisa, Lin, Bochao, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen S., Monteleone, Alessio Maria, Monteleone, Palmiero, Myers, Richard, Navratilova, Marie, Ntalla, Ionna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Pantel, Jacques, Papežová, Hana, Pinto, Dalila, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Scott, Laura J., Seitz, Jochen, Silén, Yasmina, Šlachtová, Lenka, Slagboom, P. Eline, Slof-Op ‘t Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemis, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantinos, van Elburg, Annemarie A., van Furth, Eric F., Walton, Esther, Widen, Elisabeth, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James E., Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thomas, Whiteman, David C., Woodside, D. Blake, Gordon, Scott, Maguire, Sarah, Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin, Wade, Tracey D., Birgegård, Andreas, Lichtenstein, Paul, Landén, Mikael, Martin, Nicholas G., Mortensen, Preben Bo, Breen, Gerome, and Bulik, Cynthia M.
Abstract: Background: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche. Methods: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (<13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses. Results: Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism–h2) were 0.01–0.04 for age of onset, 0.16–0.25 for early-onset AN, and 0.17–0.25 for typical-onset AN. Early- and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early-onset AN. Conclusions: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
Published: 2022

15. Concept validation of a high dynamic range point-diffraction interferometer for wavefront sensing in adaptive optics

Author: Dubost, Nicolas, Bharmal, Nazim Ali, Dubbeldam, Marc, Myers, Richard M., Dubost, Nicolas, Bharmal, Nazim Ali, Dubbeldam, Marc, and Myers, Richard M.
Abstract: The direct detection and imaging of exoplanets requires the use of high-contrast adaptive optics (AO). In these systems quasi-static aberrations need to be highly corrected and calibrated. In order to achieve this, the pupil-modulated point-diffraction interferometer (m-PDI), was presented in an earlier paper. This present paper focuses on m-PDI concept validation through three experiments. First, the instrument's accuracy and dynamic range are characterised by measuring the spatial transfer function at all spatial frequencies and at different amplitudes. Then, using visible monochromatic light, an adaptive optics control loop is closed on the system's systematic bias to test for precision and completeness. In a central section of the pupil with 72% of the total radius the residual error is 7.7nm-rms. Finally, the control loop is run using polychromatic light with a spectral FWHM of 77nm around the R-band. The control loop shows no drop in performance with respect to the monochromatic case, reaching a final Strehl ratio larger than 0.7.
Published: 2022

16. Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors.

Author: Mullins, Niamh, Mullins, Niamh, Kang, JooEun, Campos, Adrian I, Coleman, Jonathan RI, Edwards, Alexis C, Galfalvy, Hanga, Levey, Daniel F, Lori, Adriana, Shabalin, Andrey, Starnawska, Anna, Su, Mei-Hsin, Watson, Hunna J, Adams, Mark, Awasthi, Swapnil, Gandal, Michael, Hafferty, Jonathan D, Hishimoto, Akitoyo, Kim, Minsoo, Okazaki, Satoshi, Otsuka, Ikuo, Ripke, Stephan, Ware, Erin B, Bergen, Andrew W, Berrettini, Wade H, Bohus, Martin, Brandt, Harry, Chang, Xiao, Chen, Wei J, Chen, Hsi-Chung, Crawford, Steven, Crow, Scott, DiBlasi, Emily, Duriez, Philibert, Fernández-Aranda, Fernando, Fichter, Manfred M, Gallinger, Steven, Glatt, Stephen J, Gorwood, Philip, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine A, Hwu, Hai-Gwo, Jain, Sonia, Jamain, Stéphane, Jiménez-Murcia, Susana, Johnson, Craig, Kaplan, Allan S, Kaye, Walter H, Keel, Pamela K, Kennedy, James L, Klump, Kelly L, Li, Dong, Liao, Shih-Cheng, Lieb, Klaus, Lilenfeld, Lisa, Liu, Chih-Min, Magistretti, Pierre J, Marshall, Christian R, Mitchell, James E, Monson, Eric T, Myers, Richard M, Pinto, Dalila, Powers, Abigail, Ramoz, Nicolas, Roepke, Stefan, Rozanov, Vsevolod, Scherer, Stephen W, Schmahl, Christian, Sokolowski, Marcus, Strober, Michael, Thornton, Laura M, Treasure, Janet, Tsuang, Ming T, Witt, Stephanie H, Woodside, D Blake, Yilmaz, Zeynep, Zillich, Lea, Adolfsson, Rolf, Agartz, Ingrid, Air, Tracy M, Alda, Martin, Alfredsson, Lars, Andreassen, Ole A, Anjorin, Adebayo, Appadurai, Vivek, Soler Artigas, María, Van der Auwera, Sandra, Azevedo, M Helena, Bass, Nicholas, Bau, Claiton HD, Baune, Bernhard T, Bellivier, Frank, Berger, Klaus, Biernacka, Joanna M, Bigdeli, Tim B, Binder, Elisabeth B, Boehnke, Michael, Boks, Marco P, Bosch, Rosa, Braff, David L, Mullins, Niamh, Mullins, Niamh, Kang, JooEun, Campos, Adrian I, Coleman, Jonathan RI, Edwards, Alexis C, Galfalvy, Hanga, Levey, Daniel F, Lori, Adriana, Shabalin, Andrey, Starnawska, Anna, Su, Mei-Hsin, Watson, Hunna J, Adams, Mark, Awasthi, Swapnil, Gandal, Michael, Hafferty, Jonathan D, Hishimoto, Akitoyo, Kim, Minsoo, Okazaki, Satoshi, Otsuka, Ikuo, Ripke, Stephan, Ware, Erin B, Bergen, Andrew W, Berrettini, Wade H, Bohus, Martin, Brandt, Harry, Chang, Xiao, Chen, Wei J, Chen, Hsi-Chung, Crawford, Steven, Crow, Scott, DiBlasi, Emily, Duriez, Philibert, Fernández-Aranda, Fernando, Fichter, Manfred M, Gallinger, Steven, Glatt, Stephen J, Gorwood, Philip, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine A, Hwu, Hai-Gwo, Jain, Sonia, Jamain, Stéphane, Jiménez-Murcia, Susana, Johnson, Craig, Kaplan, Allan S, Kaye, Walter H, Keel, Pamela K, Kennedy, James L, Klump, Kelly L, Li, Dong, Liao, Shih-Cheng, Lieb, Klaus, Lilenfeld, Lisa, Liu, Chih-Min, Magistretti, Pierre J, Marshall, Christian R, Mitchell, James E, Monson, Eric T, Myers, Richard M, Pinto, Dalila, Powers, Abigail, Ramoz, Nicolas, Roepke, Stefan, Rozanov, Vsevolod, Scherer, Stephen W, Schmahl, Christian, Sokolowski, Marcus, Strober, Michael, Thornton, Laura M, Treasure, Janet, Tsuang, Ming T, Witt, Stephanie H, Woodside, D Blake, Yilmaz, Zeynep, Zillich, Lea, Adolfsson, Rolf, Agartz, Ingrid, Air, Tracy M, Alda, Martin, Alfredsson, Lars, Andreassen, Ole A, Anjorin, Adebayo, Appadurai, Vivek, Soler Artigas, María, Van der Auwera, Sandra, Azevedo, M Helena, Bass, Nicholas, Bau, Claiton HD, Baune, Bernhard T, Bellivier, Frank, Berger, Klaus, Biernacka, Joanna M, Bigdeli, Tim B, Binder, Elisabeth B, Boehnke, Michael, Boks, Marco P, Bosch, Rosa, and Braff, David L
Abstract: BackgroundSuicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders.MethodsWe conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors.ResultsTwo loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged.ConclusionsOur results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.
Published: 2022

17. Mitochondria DNA copy number, mitochondria DNA total somatic deletions, Complex I activity, synapse number, and synaptic mitochondria number are altered in schizophrenia and bipolar disorder.

Author: Das, Sujan C, Das, Sujan C, Hjelm, Brooke E, Rollins, Brandi L, Sequeira, Adolfo, Morgan, Ling, Omidsalar, Audrey A, Schatzberg, Alan F, Barchas, Jack D, Lee, Francis S, Myers, Richard M, Watson, Stanley J, Akil, Huda, Bunney, William E, Vawter, Marquis P, Das, Sujan C, Das, Sujan C, Hjelm, Brooke E, Rollins, Brandi L, Sequeira, Adolfo, Morgan, Ling, Omidsalar, Audrey A, Schatzberg, Alan F, Barchas, Jack D, Lee, Francis S, Myers, Richard M, Watson, Stanley J, Akil, Huda, Bunney, William E, and Vawter, Marquis P
Abstract: Mitochondrial dysfunction is a neurobiological phenomenon implicated in the pathophysiology of schizophrenia and bipolar disorder that can synergistically affect synaptic neurotransmission. We hypothesized that schizophrenia and bipolar disorder share molecular alterations at the mitochondrial and synaptic levels. Mitochondria DNA (mtDNA) copy number (CN), mtDNA common deletion (CD), mtDNA total deletion, complex I activity, synapse number, and synaptic mitochondria number were studied in the postmortem human dorsolateral prefrontal cortex (DLPFC), superior temporal gyrus (STG), primary visual cortex (V1), and nucleus accumbens (NAc) of controls (CON), and subjects with schizophrenia (SZ), and bipolar disorder (BD). The results showed (i) the mtDNA CN is significantly higher in DLPFC of both SZ and BD, decreased in the STG of BD, and unaltered in V1 and NAc of both SZ and BD; (ii) the mtDNA CD is significantly higher in DLPFC of BD while unaltered in STG, V1, and NAc of both SZ and BD; (iii) The total deletion burden is significantly higher in DLPFC in both SZ and BD while unaltered in STG, V1, and NAc of SZ and BD; (iv) Complex I activity is significantly lower in DLPFC of both SZ and BD, which is driven by the presence of medications, with no alteration in STG, V1, and NAc. In addition, complex I protein concentration, by ELISA, was decreased across three cortical regions of SZ and BD subjects; (v) The number of synapses is decreased in DLPFC of both SZ and BD, while the synaptic mitochondria number was significantly lower in female SZ and female BD compared to female controls. Overall, these findings will pave the way to understand better the pathophysiology of schizophrenia and bipolar disorder for therapeutic interventions.
Published: 2022

18. Context-specific emergence and growth of the SARS-CoV-2 Delta variant.

Author: McCrone, John T, McCrone, John T, Hill, Verity, Bajaj, Sumali, Pena, Rosario Evans, Lambert, Ben C, Inward, Rhys, Bhatt, Samir, Volz, Erik, Ruis, Christopher, Dellicour, Simon, Baele, Guy, Zarebski, Alexander E, Sadilek, Adam, Wu, Neo, Schneider, Aaron, Ji, Xiang, Raghwani, Jayna, Jackson, Ben, Colquhoun, Rachel, O'Toole, Áine, Peacock, Thomas P, Twohig, Kate, Thelwall, Simon, Dabrera, Gavin, Myers, Richard, COVID-19 Genomics UK (COG-UK) Consortium, Faria, Nuno R, Huber, Carmen, Bogoch, Isaac I, Khan, Kamran, du Plessis, Louis, Barrett, Jeffrey C, Aanensen, David M, Barclay, Wendy S, Chand, Meera, Connor, Thomas, Loman, Nicholas J, Suchard, Marc A, Pybus, Oliver G, Rambaut, Andrew, Kraemer, Moritz UG, McCrone, John T, McCrone, John T, Hill, Verity, Bajaj, Sumali, Pena, Rosario Evans, Lambert, Ben C, Inward, Rhys, Bhatt, Samir, Volz, Erik, Ruis, Christopher, Dellicour, Simon, Baele, Guy, Zarebski, Alexander E, Sadilek, Adam, Wu, Neo, Schneider, Aaron, Ji, Xiang, Raghwani, Jayna, Jackson, Ben, Colquhoun, Rachel, O'Toole, Áine, Peacock, Thomas P, Twohig, Kate, Thelwall, Simon, Dabrera, Gavin, Myers, Richard, COVID-19 Genomics UK (COG-UK) Consortium, Faria, Nuno R, Huber, Carmen, Bogoch, Isaac I, Khan, Kamran, du Plessis, Louis, Barrett, Jeffrey C, Aanensen, David M, Barclay, Wendy S, Chand, Meera, Connor, Thomas, Loman, Nicholas J, Suchard, Marc A, Pybus, Oliver G, Rambaut, Andrew, and Kraemer, Moritz UG
Abstract: The SARS-CoV-2 Delta (Pango lineage B.1.617.2) variant of concern spread globally, causing resurgences of COVID-19 worldwide1,2. The emergence of the Delta variant in the UK occurred on the background of a heterogeneous landscape of immunity and relaxation of non-pharmaceutical interventions. Here we analyse 52,992 SARS-CoV-2 genomes from England together with 93,649 genomes from the rest of the world to reconstruct the emergence of Delta and quantify its introduction to and regional dissemination across England in the context of changing travel and social restrictions. Using analysis of human movement, contact tracing and virus genomic data, we find that the geographic focus of the expansion of Delta shifted from India to a more global pattern in early May 2021. In England, Delta lineages were introduced more than 1,000 times and spread nationally as non-pharmaceutical interventions were relaxed. We find that hotel quarantine for travellers reduced onward transmission from importations; however, the transmission chains that later dominated the Delta wave in England were seeded before travel restrictions were introduced. Increasing inter-regional travel within England drove the nationwide dissemination of Delta, with some cities receiving more than 2,000 observable lineage introductions from elsewhere. Subsequently, increased levels of local population mixing-and not the number of importations-were associated with the faster relative spread of Delta. The invasion dynamics of Delta depended on spatial heterogeneity in contact patterns, and our findings will inform optimal spatial interventions to reduce the transmission of current and future variants of concern, such as Omicron (Pango lineage B.1.1.529).
Published: 2022

19. Author Correction: Perspectives on ENCODE.

Author: ENCODE Project Consortium, ENCODE Project Consortium, Snyder, Michael P, Gingeras, Thomas R, Moore, Jill E, Weng, Zhiping, Gerstein, Mark B, Ren, Bing, Hardison, Ross C, Stamatoyannopoulos, John A, Graveley, Brenton R, Feingold, Elise A, Pazin, Michael J, Pagan, Michael, Gilchrist, Daniel A, Hitz, Benjamin C, Cherry, J Michael, Bernstein, Bradley E, Mendenhall, Eric M, Zerbino, Daniel R, Frankish, Adam, Flicek, Paul, Myers, Richard M, ENCODE Project Consortium, ENCODE Project Consortium, Snyder, Michael P, Gingeras, Thomas R, Moore, Jill E, Weng, Zhiping, Gerstein, Mark B, Ren, Bing, Hardison, Ross C, Stamatoyannopoulos, John A, Graveley, Brenton R, Feingold, Elise A, Pazin, Michael J, Pagan, Michael, Gilchrist, Daniel A, Hitz, Benjamin C, Cherry, J Michael, Bernstein, Bradley E, Mendenhall, Eric M, Zerbino, Daniel R, Frankish, Adam, Flicek, Paul, and Myers, Richard M
Abstract: In this Article, the authors Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) were mistakenly omitted from the ENCODE Project Consortium author list. The original Article has been corrected online.
Published: 2022

20. Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes.

Author: ENCODE Project Consortium, ENCODE Project Consortium, Moore, Jill E, Purcaro, Michael J, Pratt, Henry E, Epstein, Charles B, Shoresh, Noam, Adrian, Jessika, Kawli, Trupti, Davis, Carrie A, Dobin, Alexander, Kaul, Rajinder, Halow, Jessica, Van Nostrand, Eric L, Freese, Peter, Gorkin, David U, Shen, Yin, He, Yupeng, Mackiewicz, Mark, Pauli-Behn, Florencia, Williams, Brian A, Mortazavi, Ali, Keller, Cheryl A, Zhang, Xiao-Ou, Elhajjajy, Shaimae I, Huey, Jack, Dickel, Diane E, Snetkova, Valentina, Wei, Xintao, Wang, Xiaofeng, Rivera-Mulia, Juan Carlos, Rozowsky, Joel, Zhang, Jing, Chhetri, Surya B, Zhang, Jialing, Victorsen, Alec, White, Kevin P, Visel, Axel, Yeo, Gene W, Burge, Christopher B, Lécuyer, Eric, Gilbert, David M, Dekker, Job, Rinn, John, Mendenhall, Eric M, Ecker, Joseph R, Kellis, Manolis, Klein, Robert J, Noble, William S, Kundaje, Anshul, Guigó, Roderic, Farnham, Peggy J, Cherry, J Michael, Myers, Richard M, Ren, Bing, Graveley, Brenton R, Gerstein, Mark B, Pennacchio, Len A, Snyder, Michael P, Bernstein, Bradley E, Wold, Barbara, Hardison, Ross C, Gingeras, Thomas R, Stamatoyannopoulos, John A, Weng, Zhiping, ENCODE Project Consortium, ENCODE Project Consortium, Moore, Jill E, Purcaro, Michael J, Pratt, Henry E, Epstein, Charles B, Shoresh, Noam, Adrian, Jessika, Kawli, Trupti, Davis, Carrie A, Dobin, Alexander, Kaul, Rajinder, Halow, Jessica, Van Nostrand, Eric L, Freese, Peter, Gorkin, David U, Shen, Yin, He, Yupeng, Mackiewicz, Mark, Pauli-Behn, Florencia, Williams, Brian A, Mortazavi, Ali, Keller, Cheryl A, Zhang, Xiao-Ou, Elhajjajy, Shaimae I, Huey, Jack, Dickel, Diane E, Snetkova, Valentina, Wei, Xintao, Wang, Xiaofeng, Rivera-Mulia, Juan Carlos, Rozowsky, Joel, Zhang, Jing, Chhetri, Surya B, Zhang, Jialing, Victorsen, Alec, White, Kevin P, Visel, Axel, Yeo, Gene W, Burge, Christopher B, Lécuyer, Eric, Gilbert, David M, Dekker, Job, Rinn, John, Mendenhall, Eric M, Ecker, Joseph R, Kellis, Manolis, Klein, Robert J, Noble, William S, Kundaje, Anshul, Guigó, Roderic, Farnham, Peggy J, Cherry, J Michael, Myers, Richard M, Ren, Bing, Graveley, Brenton R, Gerstein, Mark B, Pennacchio, Len A, Snyder, Michael P, Bernstein, Bradley E, Wold, Barbara, Hardison, Ross C, Gingeras, Thomas R, Stamatoyannopoulos, John A, and Weng, Zhiping
Abstract: In the version of this article initially published, two members of the ENCODE Project Consortium were missing from the author list. Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) are now included in the author list. These errors have been corrected in the online version of the article.
Published: 2022

21. Context-specific emergence and growth of the SARS-CoV-2 Delta variant

Author: McCrone, John T., Hill, Verity, Bajaj, Sumali, Pena, Rosario Evans, Lambert, Ben C., Inward, Rhys, Bhatt, Samir, Volz, Erik, Ruis, Christopher, Dellicour, Simon, Baele, Guy, Zarebski, Alexander E., Sadilek, Adam, Wu, Neo, Schneider, Aaron, Ji, Xiang, Raghwani, Jayna, Jackson, Ben, Colquhoun, Rachel, O’Toole, Áine, Peacock, Thomas P., Twohig, Kate, Thelwall, Simon, Dabrera, Gavin, Myers, Richard, Faria, Nuno R., Huber, Carmen, Bogoch, Isaac I., Khan, Kamran, du Plessis, Louis, Barrett, Jeffrey C., Aanensen, David M., Barclay, Wendy S., Chand, Meera, Connor, Thomas, Loman, Nicholas J., Suchard, Marc A., Pybus, Oliver G., Rambaut, Andrew, Kraemer, Moritz U.G., McCrone, John T., Hill, Verity, Bajaj, Sumali, Pena, Rosario Evans, Lambert, Ben C., Inward, Rhys, Bhatt, Samir, Volz, Erik, Ruis, Christopher, Dellicour, Simon, Baele, Guy, Zarebski, Alexander E., Sadilek, Adam, Wu, Neo, Schneider, Aaron, Ji, Xiang, Raghwani, Jayna, Jackson, Ben, Colquhoun, Rachel, O’Toole, Áine, Peacock, Thomas P., Twohig, Kate, Thelwall, Simon, Dabrera, Gavin, Myers, Richard, Faria, Nuno R., Huber, Carmen, Bogoch, Isaac I., Khan, Kamran, du Plessis, Louis, Barrett, Jeffrey C., Aanensen, David M., Barclay, Wendy S., Chand, Meera, Connor, Thomas, Loman, Nicholas J., Suchard, Marc A., Pybus, Oliver G., Rambaut, Andrew, and Kraemer, Moritz U.G.
Abstract: The SARS-CoV-2 Delta (Pango lineage B.1.617.2) variant of concern spread globally, causing resurgences of COVID-19 worldwide1,2. The emergence of the Delta variant in the UK occurred on the background of a heterogeneous landscape of immunity and relaxation of non-pharmaceutical interventions. Here we analyse 52,992 SARS-CoV-2 genomes from England together with 93,649 genomes from the rest of the world to reconstruct the emergence of Delta and quantify its introduction to and regional dissemination across England in the context of changing travel and social restrictions. Using analysis of human movement, contact tracing and virus genomic data, we find that the geographic focus of the expansion of Delta shifted from India to a more global pattern in early May 2021. In England, Delta lineages were introduced more than 1,000 times and spread nationally as non-pharmaceutical interventions were relaxed. We find that hotel quarantine for travellers reduced onward transmission from importations; however, the transmission chains that later dominated the Delta wave in England were seeded before travel restrictions were introduced. Increasing inter-regional travel within England drove the nationwide dissemination of Delta, with some cities receiving more than 2,000 observable lineage introductions from elsewhere. Subsequently, increased levels of local population mixing—and not the number of importations—were associated with the faster relative spread of Delta. The invasion dynamics of Delta depended on spatial heterogeneity in contact patterns, and our findings will inform optimal spatial interventions to reduce the transmission of current and future variants of concern, such as Omicron (Pango lineage B.1.1.529).
Published: 2022

22. The Science Performance of JWST as Characterized in Commissioning

Author: Rigby, Jane, Perrin, Marshall, McElwain, Michael, Kimble, Randy, Friedman, Scott, Lallo, Matt, Doyon, René, Feinberg, Lee, Ferruit, Pierre, Glasse, Alistair, Rieke, Marcia, Rieke, George, Wright, Gillian, Willott, Chris, Colon, Knicole, Milam, Stefanie, Neff, Susan, Stark, Christopher, Valenti, Jeff, Abell, Jim, Abney, Faith, Abul-Huda, Yasin, Acton, D. Scott, Adams, Evan, Adler, David, Aguilar, Jonathan, Ahmed, Nasif, Albert, Loïc, Alberts, Stacey, Aldridge, David, Allen, Marsha, Altenburg, Martin, Marquez, Javier Alvarez, de Oliveira, Catarina Alves, Andersen, Greg, Anderson, Harry, Anderson, Sara, Argyriou, Ioannis, Armstrong, Amber, Arribas, Santiago, Artigau, Etienne, Arvai, Amanda, Atkinson, Charles, Bacon, Gregory, Bair, Thomas, Banks, Kimberly, Barrientes, Jaclyn, Barringer, Bruce, Bartosik, Peter, Bast, William, Baudoz, Pierre, Beatty, Thomas, Bechtold, Katie, Beck, Tracy, Bergeron, Eddie, Bergkoetter, Matthew, Bhatawdekar, Rachana, Birkmann, Stephan, Blazek, Ronald, Blome, Claire, Boccaletti, Anthony, Boeker, Torsten, Boia, John, Bonaventura, Nina, Bond, Nicholas, Bosley, Kari, Boucarut, Ray, Bourque, Matthew, Bouwman, Jeroen, Bower, Gary, Bowers, Charles, Boyer, Martha, Bradley, Larry, Brady, Greg, Braun, Hannah, Breda, David, Bresnahan, Pamela, Bright, Stacey, Britt, Christopher, Bromenschenkel, Asa, Brooks, Brian, Brooks, Keira, Brown, Bob, Brown, Matthew, Brown, Patricia, Bunker, Andy, Burger, Matthew, Bushouse, Howard, Cale, Steven, Cameron, Alex, Cameron, Peter, Canipe, Alicia, Caplinger, James, Caputo, Francis, Cara, Mihai, Carey, Larkin, Carniani, Stefano, Carrasquilla, Maria, Carruthers, Margaret, Case, Michael, Catherine, Riggs, Chance, Don, Chapman, George, Charlot, Stéphane, Charlow, Brian, Chayer, Pierre, Chen, Bin, Cherinka, Brian, Chichester, Sarah, Chilton, Zack, Chonis, Taylor, Clampin, Mark, Clark, Charles, Clark, Kerry, Coe, Dan, Coleman, Benee, Comber, Brian, Comeau, Tom, Connolly, Dennis, Cooper, James, Cooper, Rachel, Coppock, Eric, Correnti, Matteo, Cossou, Christophe, Coulais, Alain, Coyle, Laura, Cracraft, Misty, Curti, Mirko, Cuturic, Steven, Davis, Katherine, Davis, Michael, Dean, Bruce, DeLisa, Amy, deMeester, Wim, Dencheva, Nadia, Dencheva, Nadezhda, DePasquale, Joseph, Deschenes, Jeremy, Detre, Örs Hunor, Diaz, Rosa, Dicken, Dan, DiFelice, Audrey, Dillman, Matthew, Dixon, William, Doggett, Jesse, Donaldson, Tom, Douglas, Rob, DuPrie, Kimberly, Dupuis, Jean, Durning, John, Easmin, Nilufar, Eck, Weston, Edeani, Chinwe, Egami, Eiichi, Ehrenwinkler, Ralf, Eisenhamer, Jonathan, Eisenhower, Michael, Elie, Michelle, Elliott, James, Elliott, Kyle, Ellis, Tracy, Engesser, Michael, Espinoza, Nestor, Etienne, Odessa, Etxaluze, Mireya, Falini, Patrick, Feeney, Matthew, Ferry, Malcolm, Filippazzo, Joseph, Fincham, Brian, Fix, Mees, Flagey, Nicolas, Florian, Michael, Flynn, Jim, Fontanella, Erin, Ford, Terrance, Forshay, Peter, Fox, Ori, Franz, David, Fu, Henry, Fullerton, Alexander, Galkin, Sergey, Galyer, Anthony, Marin, Macarena Garcia, Gardner, Jonathan, Gardner, Lisa, Garland, Dennis, Garrett, Bruce, Gasman, Danny, Gaspar, Andras, Gaudreau, Daniel, Gauthier, Peter, Geers, Vincent, Geithner, Paul, Gennaro, Mario, Giardino, Giovanna, Girard, Julien, Giuliano, Mark, Glassmire, Kirk, Glauser, Adrian, Glazer, Stuart, Godfrey, John, Golimowski, David, Gollnitz, David, Gong, Fan, Gonzaga, Shireen, Gordon, Michael, Gordon, Karl, Goudfrooij, Paul, Greene, Thomas, Greenhouse, Matthew, Grimaldi, Stefano, Groebner, Andrew, Grundy, Timothy, Guillard, Pierre, Gutman, Irvin, Ha, Kong Q., Haderlein, Peter, Hagedorn, Andria, Hainline, Kevin, Haley, Craig, Hami, Maryam, Hamilton, Forrest, Hammel, Heidi, Hansen, Carl, Harkins, Tom, Harr, Michael, Hart, Jessica, Hart, Quyen, Hartig, George, Hashimoto, Ryan, Haskins, Sujee, Hathaway, William, Havey, Keith, Hayden, Brian, Hecht, Karen, Heller-Boyer, Chris, Henriques, Caroline, Henry, Alaina, Hermann, Karl, Hernandez, Scarlin, Hesman, Brigette, Hicks, Brian, Hilbert, Bryan, Hines, Dean, Hoffman, Melissa, Holfeltz, Sherie, Holler, Bryan J., Hoppa, Jennifer, Hott, Kyle, Howard, Joseph, Howard, Rick, Hunter, Alexander, Hunter, David, Hurst, Brendan, Husemann, Bernd, Hustak, Leah, Ignat, Luminita Ilinca, Illingworth, Garth, Irish, Sandra, Jackson, Wallace, Jahromi, Amir, Jakobsen, Peter, James, LeAndrea, James, Bryan, Januszewski, William, Jenkins, Ann, Jirdeh, Hussein, Johnson, Phillip, Johnson, Timothy, Jones, Vicki, Jones, Ron, Jones, Danny, Jones, Olivia, Jordan, Ian, Jordan, Margaret, Jurczyk, Sarah, Jurling, Alden, Kaleida, Catherine, Kalmanson, Phillip, Kammerer, Jens, Kang, Huijo, Kao, Shaw-Hong, Karakla, Diane, Kavanagh, Patrick, Kelly, Doug, Kendrew, Sarah, Kennedy, Herbert, Kenny, Deborah, Keski-kuha, Ritva, Keyes, Charles, Kidwell, Richard, Kinzel, Wayne, Kirk, Jeff, Kirkpatrick, Mark, Kirshenblat, Danielle, Klaassen, Pamela, Knapp, Bryan, Knight, J. Scott, Knollenberg, Perry, Koehler, Robert, Koekemoer, Anton, Kovacs, Aiden, Kulp, Trey, Kumari, Nimisha, Kyprianou, Mark, La Massa, Stephanie, Labador, Aurora, Ortega, Alvaro Labiano, Lagage, Pierre-Olivier, Lajoie, Charles-Phillipe, Lallo, Matthew, Lam, May, Lamb, Tracy, Lambros, Scott, Lampenfield, Richard, Langston, James, Larson, Kirsten, Law, David, Lawrence, Jon, Lee, David, Leisenring, Jarron, Lepo, Kelly, Leveille, Michael, Levenson, Nancy, Levine, Marie, Levy, Zena, Lewis, Dan, Lewis, Hannah, Libralato, Mattia, Lightsey, Paul, Link, Miranda, Liu, Lily, Lo, Amy, Lockwood, Alexandra, Logue, Ryan, Long, Chris, Long, Douglas, Loomis, Charles, Lopez-Caniego, Marcos, Alvarez, Jose Lorenzo, Love-Pruitt, Jennifer, Lucy, Adrian, Luetzgendorf, Nora, Maghami, Peiman, Maiolino, Roberto, Major, Melissa, Malla, Sunita, Malumuth, Eliot, Manjavacas, Elena, Mannfolk, Crystal, Marrione, Amanda, Marston, Anthony, Martel, André, Maschmann, Marc, Masci, Gregory, Masciarelli, Michaela, Maszkiewicz, Michael, Mather, John, McKenzie, Kenny, McLean, Brian, McMaster, Matthew, Melbourne, Katie, Meléndez, Marcio, Menzel, Michael, Merz, Kaiya, Meyett, Michele, Meza, Luis, Miskey, Cherie, Misselt, Karl, Moller, Christopher, Morrison, Jane, Morse, Ernie, Moseley, Harvey, Mosier, Gary, Mountain, Matt, Mueckay, Julio, Mueller, Michael, Mullally, Susan, Murphy, Jess, Murray, Katherine, Murray, Claire, Mustelier, David, Muzerolle, James, Mycroft, Matthew, Myers, Richard, Myrick, Kaila, Nanavati, Shashvat, Nance, Elizabeth, Nayak, Omnarayani, Naylor, Bret, Nelan, Edmund, Nickson, Bryony, Nielson, Alethea, Nieto-Santisteban, Maria, Nikolov, Nikolay, Noriega-Crespo, Alberto, O'Shaughnessy, Brian, O'Sullivan, Brian, Ochs, William, Ogle, Patrick, Oleszczuk, Brenda, Olmsted, Joseph, Osborne, Shannon, Ottens, Richard, Owens, Beverly, Pacifici, Camilla, Pagan, Alyssa, Page, James, Park, Sang, Parrish, Keith, Patapis, Polychronis, Paul, Lee, Pauly, Tyler, Pavlovsky, Cheryl, Pedder, Andrew, Peek, Matthew, Pena-Guerrero, Maria, Pennanen, Konstantin, Perez, Yesenia, Perna, Michele, Perriello, Beth, Phillips, Kevin, Pietraszkiewicz, Martin, Pinaud, Jean-Paul, Pirzkal, Norbert, Pitman, Joseph, Piwowar, Aidan, Platais, Vera, Player, Danielle, Plesha, Rachel, Pollizi, Joe, Polster, Ethan, Pontoppidan, Klaus, Porterfield, Blair, Proffitt, Charles, Pueyo, Laurent, Pulliam, Christine, Quirt, Brian, Neira, Irma Quispe, Alarcon, Rafael Ramos, Ramsay, Leah, Rapp, Greg, Rapp, Robert, Rauscher, Bernard, Ravindranath, Swara, Rawle, Timothy, Regan, Michael, Reichard, Timothy A., Reis, Carl, Ressler, Michael E., Rest, Armin, Reynolds, Paul, Rhue, Timothy, Richon, Karen, Rickman, Emily, Ridgaway, Michael, Ritchie, Christine, Rix, Hans-Walter, Robberto, Massimo, Robinson, Gregory, Robinson, Michael, Robinson, Orion, Rock, Frank, Rodriguez, David, Del Pino, Bruno Rodriguez, Roellig, Thomas, Rohrbach, Scott, Roman, Anthony, Romelfanger, Fred, Rose, Perry, Roteliuk, Anthony, Roth, Marc, Rothwell, Braden, Rowlands, Neil, Roy, Arpita, Royer, Pierre, Royle, Patricia, Rui, Chunlei, Rumler, Peter, Runnels, Joel, Russ, Melissa, Rustamkulov, Zafar, Ryden, Grant, Ryer, Holly, Sabata, Modhumita, Sabatke, Derek, Sabbi, Elena, Samuelson, Bridget, Sapp, Benjamin, Sappington, Bradley, Sargent, B., Sauer, Arne, Scheithauer, Silvia, Schlawin, Everett, Schlitz, Joseph, Schmitz, Tyler, Schneider, Analyn, Schreiber, Jürgen, Schulze, Vonessa, Schwab, Ryan, Scott, John, Sembach, Kenneth, Shanahan, Clare, Shaughnessy, Bryan, Shaw, Richard, Shawger, Nanci, Shay, Christopher, Sheehan, Evan, Shen, Sharon, Sherman, Allan, Shiao, Bernard, Shih, Hsin-Yi, Shivaei, Irene, Sienkiewicz, Matthew, Sing, David, Sirianni, Marco, Sivaramakrishnan, Anand, Skipper, Joy, Sloan, Gregory, Slocum, Christine, Slowinski, Steven, Smith, Erin, Smith, Eric, Smith, Denise, Smith, Corbett, Snyder, Gregory, Soh, Warren, Sohn, Tony, Soto, Christian, Spencer, Richard, Stallcup, Scott, Stansberry, John, Starr, Carl, Starr, Elysia, Stewart, Alphonso, Stiavelli, Massimo, Straughn, Amber, Strickland, David, Stys, Jeff, Summers, Francis, Sun, Fengwu, Sunnquist, Ben, Swade, Daryl, Swam, Michael, Swaters, Robert, Swoish, Robby, Taylor, Joanna M., Taylor, Rolanda, Plate, Maurice Te, Tea, Mason, Teague, Kelly, Telfer, Randal, Temim, Tea, Thatte, Deepashri, Thompson, Christopher, Thompson, Linda, Thomson, Shaun, Tikkanen, Tuomo, Tippet, William, Todd, Connor, Toolan, Sharon, Tran, Hien, Trejo, Edwin, Truong, Justin, Tsukamoto, Chris, Tustain, Samuel, Tyra, Harrison, Ubeda, Leonardo, Underwood, Kelli, Uzzo, Michael, Van Campen, Julie, Vandal, Thomas, Vandenbussche, Bart, Vila, Begoña, Volk, Kevin, Wahlgren, Glenn, Waldman, Mark, Walker, Chanda, Wander, Michel, Warfield, Christine, Warner, Gerald, Wasiak, Matthew, Watkins, Mitchell, Weaver, Andrew, Weilert, Mark, Weiser, Nick, Weiss, Ben, Weissman, Sarah, Welty, Alan, West, Garrett, Wheate, Lauren, Wheatley, Elizabeth, Wheeler, Thomas, White, Rick, Whiteaker, Kevin, Whitehouse, Paul, Whiteleather, Jennifer, Whitman, William, Williams, Christina, Willmer, Christopher, Willoughby, Scott, Wilson, Andrew, Wirth, Gregory, Wislowski, Emily, Wolf, Erin, Wolfe, David, Wolff, Schuyler, Workman, Bill, Wright, Ray, Wu, Carl, Wu, Rai, Wymer, Kristen, Yates, Kayla, Yeager, Christopher, Yeates, Jared, Yerger, Ethan, Yoon, Jinmi, Young, Alice, Yu, Susan, Zak, Dean, Zeidler, Peter, Zhou, Julia, Zielinski, Thomas, Zincke, Cristian, Zonak, Stephanie, Rigby, Jane, Perrin, Marshall, McElwain, Michael, Kimble, Randy, Friedman, Scott, Lallo, Matt, Doyon, René, Feinberg, Lee, Ferruit, Pierre, Glasse, Alistair, Rieke, Marcia, Rieke, George, Wright, Gillian, Willott, Chris, Colon, Knicole, Milam, Stefanie, Neff, Susan, Stark, Christopher, Valenti, Jeff, Abell, Jim, Abney, Faith, Abul-Huda, Yasin, Acton, D. Scott, Adams, Evan, Adler, David, Aguilar, Jonathan, Ahmed, Nasif, Albert, Loïc, Alberts, Stacey, Aldridge, David, Allen, Marsha, Altenburg, Martin, Marquez, Javier Alvarez, de Oliveira, Catarina Alves, Andersen, Greg, Anderson, Harry, Anderson, Sara, Argyriou, Ioannis, Armstrong, Amber, Arribas, Santiago, Artigau, Etienne, Arvai, Amanda, Atkinson, Charles, Bacon, Gregory, Bair, Thomas, Banks, Kimberly, Barrientes, Jaclyn, Barringer, Bruce, Bartosik, Peter, Bast, William, Baudoz, Pierre, Beatty, Thomas, Bechtold, Katie, Beck, Tracy, Bergeron, Eddie, Bergkoetter, Matthew, Bhatawdekar, Rachana, Birkmann, Stephan, Blazek, Ronald, Blome, Claire, Boccaletti, Anthony, Boeker, Torsten, Boia, John, Bonaventura, Nina, Bond, Nicholas, Bosley, Kari, Boucarut, Ray, Bourque, Matthew, Bouwman, Jeroen, Bower, Gary, Bowers, Charles, Boyer, Martha, Bradley, Larry, Brady, Greg, Braun, Hannah, Breda, David, Bresnahan, Pamela, Bright, Stacey, Britt, Christopher, Bromenschenkel, Asa, Brooks, Brian, Brooks, Keira, Brown, Bob, Brown, Matthew, Brown, Patricia, Bunker, Andy, Burger, Matthew, Bushouse, Howard, Cale, Steven, Cameron, Alex, Cameron, Peter, Canipe, Alicia, Caplinger, James, Caputo, Francis, Cara, Mihai, Carey, Larkin, Carniani, Stefano, Carrasquilla, Maria, Carruthers, Margaret, Case, Michael, Catherine, Riggs, Chance, Don, Chapman, George, Charlot, Stéphane, Charlow, Brian, Chayer, Pierre, Chen, Bin, Cherinka, Brian, Chichester, Sarah, Chilton, Zack, Chonis, Taylor, Clampin, Mark, Clark, Charles, Clark, Kerry, Coe, Dan, Coleman, Benee, Comber, Brian, Comeau, Tom, Connolly, Dennis, Cooper, James, Cooper, Rachel, Coppock, Eric, Correnti, Matteo, Cossou, Christophe, Coulais, Alain, Coyle, Laura, Cracraft, Misty, Curti, Mirko, Cuturic, Steven, Davis, Katherine, Davis, Michael, Dean, Bruce, DeLisa, Amy, deMeester, Wim, Dencheva, Nadia, Dencheva, Nadezhda, DePasquale, Joseph, Deschenes, Jeremy, Detre, Örs Hunor, Diaz, Rosa, Dicken, Dan, DiFelice, Audrey, Dillman, Matthew, Dixon, William, Doggett, Jesse, Donaldson, Tom, Douglas, Rob, DuPrie, Kimberly, Dupuis, Jean, Durning, John, Easmin, Nilufar, Eck, Weston, Edeani, Chinwe, Egami, Eiichi, Ehrenwinkler, Ralf, Eisenhamer, Jonathan, Eisenhower, Michael, Elie, Michelle, Elliott, James, Elliott, Kyle, Ellis, Tracy, Engesser, Michael, Espinoza, Nestor, Etienne, Odessa, Etxaluze, Mireya, Falini, Patrick, Feeney, Matthew, Ferry, Malcolm, Filippazzo, Joseph, Fincham, Brian, Fix, Mees, Flagey, Nicolas, Florian, Michael, Flynn, Jim, Fontanella, Erin, Ford, Terrance, Forshay, Peter, Fox, Ori, Franz, David, Fu, Henry, Fullerton, Alexander, Galkin, Sergey, Galyer, Anthony, Marin, Macarena Garcia, Gardner, Jonathan, Gardner, Lisa, Garland, Dennis, Garrett, Bruce, Gasman, Danny, Gaspar, Andras, Gaudreau, Daniel, Gauthier, Peter, Geers, Vincent, Geithner, Paul, Gennaro, Mario, Giardino, Giovanna, Girard, Julien, Giuliano, Mark, Glassmire, Kirk, Glauser, Adrian, Glazer, Stuart, Godfrey, John, Golimowski, David, Gollnitz, David, Gong, Fan, Gonzaga, Shireen, Gordon, Michael, Gordon, Karl, Goudfrooij, Paul, Greene, Thomas, Greenhouse, Matthew, Grimaldi, Stefano, Groebner, Andrew, Grundy, Timothy, Guillard, Pierre, Gutman, Irvin, Ha, Kong Q., Haderlein, Peter, Hagedorn, Andria, Hainline, Kevin, Haley, Craig, Hami, Maryam, Hamilton, Forrest, Hammel, Heidi, Hansen, Carl, Harkins, Tom, Harr, Michael, Hart, Jessica, Hart, Quyen, Hartig, George, Hashimoto, Ryan, Haskins, Sujee, Hathaway, William, Havey, Keith, Hayden, Brian, Hecht, Karen, Heller-Boyer, Chris, Henriques, Caroline, Henry, Alaina, Hermann, Karl, Hernandez, Scarlin, Hesman, Brigette, Hicks, Brian, Hilbert, Bryan, Hines, Dean, Hoffman, Melissa, Holfeltz, Sherie, Holler, Bryan J., Hoppa, Jennifer, Hott, Kyle, Howard, Joseph, Howard, Rick, Hunter, Alexander, Hunter, David, Hurst, Brendan, Husemann, Bernd, Hustak, Leah, Ignat, Luminita Ilinca, Illingworth, Garth, Irish, Sandra, Jackson, Wallace, Jahromi, Amir, Jakobsen, Peter, James, LeAndrea, James, Bryan, Januszewski, William, Jenkins, Ann, Jirdeh, Hussein, Johnson, Phillip, Johnson, Timothy, Jones, Vicki, Jones, Ron, Jones, Danny, Jones, Olivia, Jordan, Ian, Jordan, Margaret, Jurczyk, Sarah, Jurling, Alden, Kaleida, Catherine, Kalmanson, Phillip, Kammerer, Jens, Kang, Huijo, Kao, Shaw-Hong, Karakla, Diane, Kavanagh, Patrick, Kelly, Doug, Kendrew, Sarah, Kennedy, Herbert, Kenny, Deborah, Keski-kuha, Ritva, Keyes, Charles, Kidwell, Richard, Kinzel, Wayne, Kirk, Jeff, Kirkpatrick, Mark, Kirshenblat, Danielle, Klaassen, Pamela, Knapp, Bryan, Knight, J. Scott, Knollenberg, Perry, Koehler, Robert, Koekemoer, Anton, Kovacs, Aiden, Kulp, Trey, Kumari, Nimisha, Kyprianou, Mark, La Massa, Stephanie, Labador, Aurora, Ortega, Alvaro Labiano, Lagage, Pierre-Olivier, Lajoie, Charles-Phillipe, Lallo, Matthew, Lam, May, Lamb, Tracy, Lambros, Scott, Lampenfield, Richard, Langston, James, Larson, Kirsten, Law, David, Lawrence, Jon, Lee, David, Leisenring, Jarron, Lepo, Kelly, Leveille, Michael, Levenson, Nancy, Levine, Marie, Levy, Zena, Lewis, Dan, Lewis, Hannah, Libralato, Mattia, Lightsey, Paul, Link, Miranda, Liu, Lily, Lo, Amy, Lockwood, Alexandra, Logue, Ryan, Long, Chris, Long, Douglas, Loomis, Charles, Lopez-Caniego, Marcos, Alvarez, Jose Lorenzo, Love-Pruitt, Jennifer, Lucy, Adrian, Luetzgendorf, Nora, Maghami, Peiman, Maiolino, Roberto, Major, Melissa, Malla, Sunita, Malumuth, Eliot, Manjavacas, Elena, Mannfolk, Crystal, Marrione, Amanda, Marston, Anthony, Martel, André, Maschmann, Marc, Masci, Gregory, Masciarelli, Michaela, Maszkiewicz, Michael, Mather, John, McKenzie, Kenny, McLean, Brian, McMaster, Matthew, Melbourne, Katie, Meléndez, Marcio, Menzel, Michael, Merz, Kaiya, Meyett, Michele, Meza, Luis, Miskey, Cherie, Misselt, Karl, Moller, Christopher, Morrison, Jane, Morse, Ernie, Moseley, Harvey, Mosier, Gary, Mountain, Matt, Mueckay, Julio, Mueller, Michael, Mullally, Susan, Murphy, Jess, Murray, Katherine, Murray, Claire, Mustelier, David, Muzerolle, James, Mycroft, Matthew, Myers, Richard, Myrick, Kaila, Nanavati, Shashvat, Nance, Elizabeth, Nayak, Omnarayani, Naylor, Bret, Nelan, Edmund, Nickson, Bryony, Nielson, Alethea, Nieto-Santisteban, Maria, Nikolov, Nikolay, Noriega-Crespo, Alberto, O'Shaughnessy, Brian, O'Sullivan, Brian, Ochs, William, Ogle, Patrick, Oleszczuk, Brenda, Olmsted, Joseph, Osborne, Shannon, Ottens, Richard, Owens, Beverly, Pacifici, Camilla, Pagan, Alyssa, Page, James, Park, Sang, Parrish, Keith, Patapis, Polychronis, Paul, Lee, Pauly, Tyler, Pavlovsky, Cheryl, Pedder, Andrew, Peek, Matthew, Pena-Guerrero, Maria, Pennanen, Konstantin, Perez, Yesenia, Perna, Michele, Perriello, Beth, Phillips, Kevin, Pietraszkiewicz, Martin, Pinaud, Jean-Paul, Pirzkal, Norbert, Pitman, Joseph, Piwowar, Aidan, Platais, Vera, Player, Danielle, Plesha, Rachel, Pollizi, Joe, Polster, Ethan, Pontoppidan, Klaus, Porterfield, Blair, Proffitt, Charles, Pueyo, Laurent, Pulliam, Christine, Quirt, Brian, Neira, Irma Quispe, Alarcon, Rafael Ramos, Ramsay, Leah, Rapp, Greg, Rapp, Robert, Rauscher, Bernard, Ravindranath, Swara, Rawle, Timothy, Regan, Michael, Reichard, Timothy A., Reis, Carl, Ressler, Michael E., Rest, Armin, Reynolds, Paul, Rhue, Timothy, Richon, Karen, Rickman, Emily, Ridgaway, Michael, Ritchie, Christine, Rix, Hans-Walter, Robberto, Massimo, Robinson, Gregory, Robinson, Michael, Robinson, Orion, Rock, Frank, Rodriguez, David, Del Pino, Bruno Rodriguez, Roellig, Thomas, Rohrbach, Scott, Roman, Anthony, Romelfanger, Fred, Rose, Perry, Roteliuk, Anthony, Roth, Marc, Rothwell, Braden, Rowlands, Neil, Roy, Arpita, Royer, Pierre, Royle, Patricia, Rui, Chunlei, Rumler, Peter, Runnels, Joel, Russ, Melissa, Rustamkulov, Zafar, Ryden, Grant, Ryer, Holly, Sabata, Modhumita, Sabatke, Derek, Sabbi, Elena, Samuelson, Bridget, Sapp, Benjamin, Sappington, Bradley, Sargent, B., Sauer, Arne, Scheithauer, Silvia, Schlawin, Everett, Schlitz, Joseph, Schmitz, Tyler, Schneider, Analyn, Schreiber, Jürgen, Schulze, Vonessa, Schwab, Ryan, Scott, John, Sembach, Kenneth, Shanahan, Clare, Shaughnessy, Bryan, Shaw, Richard, Shawger, Nanci, Shay, Christopher, Sheehan, Evan, Shen, Sharon, Sherman, Allan, Shiao, Bernard, Shih, Hsin-Yi, Shivaei, Irene, Sienkiewicz, Matthew, Sing, David, Sirianni, Marco, Sivaramakrishnan, Anand, Skipper, Joy, Sloan, Gregory, Slocum, Christine, Slowinski, Steven, Smith, Erin, Smith, Eric, Smith, Denise, Smith, Corbett, Snyder, Gregory, Soh, Warren, Sohn, Tony, Soto, Christian, Spencer, Richard, Stallcup, Scott, Stansberry, John, Starr, Carl, Starr, Elysia, Stewart, Alphonso, Stiavelli, Massimo, Straughn, Amber, Strickland, David, Stys, Jeff, Summers, Francis, Sun, Fengwu, Sunnquist, Ben, Swade, Daryl, Swam, Michael, Swaters, Robert, Swoish, Robby, Taylor, Joanna M., Taylor, Rolanda, Plate, Maurice Te, Tea, Mason, Teague, Kelly, Telfer, Randal, Temim, Tea, Thatte, Deepashri, Thompson, Christopher, Thompson, Linda, Thomson, Shaun, Tikkanen, Tuomo, Tippet, William, Todd, Connor, Toolan, Sharon, Tran, Hien, Trejo, Edwin, Truong, Justin, Tsukamoto, Chris, Tustain, Samuel, Tyra, Harrison, Ubeda, Leonardo, Underwood, Kelli, Uzzo, Michael, Van Campen, Julie, Vandal, Thomas, Vandenbussche, Bart, Vila, Begoña, Volk, Kevin, Wahlgren, Glenn, Waldman, Mark, Walker, Chanda, Wander, Michel, Warfield, Christine, Warner, Gerald, Wasiak, Matthew, Watkins, Mitchell, Weaver, Andrew, Weilert, Mark, Weiser, Nick, Weiss, Ben, Weissman, Sarah, Welty, Alan, West, Garrett, Wheate, Lauren, Wheatley, Elizabeth, Wheeler, Thomas, White, Rick, Whiteaker, Kevin, Whitehouse, Paul, Whiteleather, Jennifer, Whitman, William, Williams, Christina, Willmer, Christopher, Willoughby, Scott, Wilson, Andrew, Wirth, Gregory, Wislowski, Emily, Wolf, Erin, Wolfe, David, Wolff, Schuyler, Workman, Bill, Wright, Ray, Wu, Carl, Wu, Rai, Wymer, Kristen, Yates, Kayla, Yeager, Christopher, Yeates, Jared, Yerger, Ethan, Yoon, Jinmi, Young, Alice, Yu, Susan, Zak, Dean, Zeidler, Peter, Zhou, Julia, Zielinski, Thomas, Zincke, Cristian, and Zonak, Stephanie
Abstract: This paper characterizes the actual science performance of the James Webb Space Telescope (JWST), as determined from the six month commissioning period. We summarize the performance of the spacecraft, telescope, science instruments, and ground system, with an emphasis on differences from pre-launch expectations. Commissioning has made clear that JWST is fully capable of achieving the discoveries for which it was built. Moreover, almost across the board, the science performance of JWST is better than expected; in most cases, JWST will go deeper faster than expected. The telescope and instrument suite have demonstrated the sensitivity, stability, image quality, and spectral range that are necessary to transform our understanding of the cosmos through observations spanning from near-earth asteroids to the most distant galaxies., Comment: 5th version as accepted to PASP; 31 pages, 18 figures; https://iopscience.iop.org/article/10.1088/1538-3873/acb293
Published: 2022
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23. Longitudinal analysis of blood DNA methylation identifies mechanisms of response to tumor necrosis factor inhibitor therapy in rheumatoid arthritis

Author: Juliá, Antonio, Gómez, Antonio, López-Lasanta, María, Blanco García, Francisco J, Erra, Alba, Fernández-Nebro, Antonio, Juan Mas, Antonio, Pérez-García, Carolina, García Vivar, María Luz, Sánchez-Fernández, Simón, Alperi-López, Mercedes, Sanmartí, Raimon, Ortiz, Ana María, Marras Fernández-Cid, Carlos, Díaz-Torné, César, Moreno, Estefanía, Li, Tianlu, Martínez-Mateu, Sergio H., Absher, Devin M., Myers, Richard M., Tornero Molina, Jesús, Marsal, Sara, Juliá, Antonio, Gómez, Antonio, López-Lasanta, María, Blanco García, Francisco J, Erra, Alba, Fernández-Nebro, Antonio, Juan Mas, Antonio, Pérez-García, Carolina, García Vivar, María Luz, Sánchez-Fernández, Simón, Alperi-López, Mercedes, Sanmartí, Raimon, Ortiz, Ana María, Marras Fernández-Cid, Carlos, Díaz-Torné, César, Moreno, Estefanía, Li, Tianlu, Martínez-Mateu, Sergio H., Absher, Devin M., Myers, Richard M., Tornero Molina, Jesús, and Marsal, Sara
Abstract: [Abstract] Background: Rheumatoid arthritis (RA) is a chronic, immune-mediated inflammatory disease of the joints that has been associated with variation in the peripheral blood methylome. In this study, we aim to identify epigenetic variation that is associated with the response to tumor necrosis factor inhibitor (TNFi) therapy. Methods: Peripheral blood genome-wide DNA methylation profiles were analyzed in a discovery cohort of 62 RA patients at baseline and at week 12 of TNFi therapy. DNA methylation of individual CpG sites and enrichment of biological pathways were evaluated for their association with drug response. Using a novel cell deconvolution approach, altered DNA methylation associated with TNFi response was also tested in the six main immune cell types in blood. Validation of the results was performed in an independent longitudinal cohort of 60 RA patients. Findings: Treatment with TNFi was associated with significant longitudinal peripheral blood methylation changes in biological pathways related to RA (FDR<0.05). 139 biological functions were modified by therapy, with methylation levels changing systematically towards a signature similar to that of healthy controls. Differences in the methylation profile of T cell activation and differentiation, GTPase-mediated signaling, and actin filament organization pathways were associated with the clinical response to therapy. Cell type deconvolution analysis identified CpG sites in CD4+T, NK, neutrophils and monocytes that were significantly associated with the response to TNFi. Interpretation: Our results show that treatment with TNFi restores homeostatic blood methylation in RA. The clinical response to TNFi is associated to methylation variation in specific biological pathways, and it involves cells from both the innate and adaptive immune systems.
Published: 2022

24. Context-specific emergence and growth of the SARS-CoV-2 Delta variant

Author: McCrone, John J.T., Hill, Verity, Bajaj, Sumali, Pena, Rosario Evans, Lambert, Ben B.C., Inward, Rhys, Bhatt, Samir, Volz, Erik, Ruis, Christopher, Dellicour, Simon, Baele, Guy, Zarebski, Alexander Eugene, Sadilek, Adam, Wu, Neo, Schneider, Aaron, Ji, Xiang, Raghwani, Jayna, Jackson, Ben, Colquhoun, Rachel, O’Toole, Áine Niamh, Peacock, Thomas T.P., Twohig, Kate, Thelwall, Simon, Dabrera, Gavin, Myers, Richard, Faria, Nuno Rodrigues, Huber, Carmen, Bogoch, Isaac Israel, Khan, Kamran, du Plessis, Louis, Barrett, Jeffrey Carl, Aanensen, David Michael, Barclay, Wendy W.S., Chand, Meera, Connor, Thomas, Loman, Nick, Suchard, Marc M.A., Pybus, Oliver George, Rambaut, Andrew, Kraemer, Moritz U G, McCrone, John J.T., Hill, Verity, Bajaj, Sumali, Pena, Rosario Evans, Lambert, Ben B.C., Inward, Rhys, Bhatt, Samir, Volz, Erik, Ruis, Christopher, Dellicour, Simon, Baele, Guy, Zarebski, Alexander Eugene, Sadilek, Adam, Wu, Neo, Schneider, Aaron, Ji, Xiang, Raghwani, Jayna, Jackson, Ben, Colquhoun, Rachel, O’Toole, Áine Niamh, Peacock, Thomas T.P., Twohig, Kate, Thelwall, Simon, Dabrera, Gavin, Myers, Richard, Faria, Nuno Rodrigues, Huber, Carmen, Bogoch, Isaac Israel, Khan, Kamran, du Plessis, Louis, Barrett, Jeffrey Carl, Aanensen, David Michael, Barclay, Wendy W.S., Chand, Meera, Connor, Thomas, Loman, Nick, Suchard, Marc M.A., Pybus, Oliver George, Rambaut, Andrew, and Kraemer, Moritz U G
Abstract: The SARS-CoV-2 Delta (Pango lineage B.1.617.2) variant of concern spread globally, causing resurgences of COVID-19 worldwide1,2. The emergence of the Delta variant in the UK occurred on the background of a heterogeneous landscape of immunity and relaxation of non-pharmaceutical interventions. Here we analyse 52,992 SARS-CoV-2 genomes from England together with 93,649 genomes from the rest of the world to reconstruct the emergence of Delta and quantify its introduction to and regional dissemination across England in the context of changing travel and social restrictions. Using analysis of human movement, contact tracing and virus genomic data, we find that the geographic focus of the expansion of Delta shifted from India to a more global pattern in early May 2021. In England, Delta lineages were introduced more than 1,000 times and spread nationally as non-pharmaceutical interventions were relaxed. We find that hotel quarantine for travellers reduced onward transmission from importations; however, the transmission chains that later dominated the Delta wave in England were seeded before travel restrictions were introduced. Increasing inter-regional travel within England drove the nationwide dissemination of Delta, with some cities receiving more than 2,000 observable lineage introductions from elsewhere. Subsequently, increased levels of local population mixing—and not the number of importations—were associated with the faster relative spread of Delta. The invasion dynamics of Delta depended on spatial heterogeneity in contact patterns, and our findings will inform optimal spatial interventions to reduce the transmission of current and future variants of concern, such as Omicron (Pango lineage B.1.1.529)., SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2022

25. 3D Gravity in a Box

Author: Kraus, Per, Monten, Ruben, Myers, Richard M., Kraus, Per, Monten, Ruben, and Myers, Richard M.
Abstract: The quantization of pure 3D gravity with Dirichlet boundary conditions on a finite boundary is of interest both as a model of quantum gravity in which one can compute quantities which are "more local" than S-matrices or asymptotic boundary correlators, and for its proposed holographic duality to $T \overline{T}$-deformed CFTs. In this work we apply covariant phase space methods to deduce the Poisson bracket algebra of boundary observables. The result is a one-parameter nonlinear deformation of the usual Virasoro algebra of asymptotically AdS$_3$ gravity. This algebra should be obeyed by the stress tensor in any $T\overline{T}$-deformed holographic CFT. We next initiate quantization of this system within the general framework of coadjoint orbits, obtaining - in perturbation theory - a deformed version of the Alekseev-Shatashvili symplectic form and its associated geometric action. The resulting energy spectrum is consistent with the expected spectrum of $T\overline{T}$-deformed theories, although we only carry out the explicit comparison to $\mathcal{O}(1/\sqrt{c})$ in the $1/c$ expansion., Comment: 59 pages, corrected typos and minus signs. This is the published version
Published: 2021
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26. The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science.

Author: Ibanez, Agustin, Ibanez, Agustin, Yokoyama, Jennifer S, Possin, Katherine L, Matallana, Diana, Lopera, Francisco, Nitrini, Ricardo, Takada, Leonel T, Custodio, Nilton, Sosa Ortiz, Ana Luisa, Avila-Funes, José Alberto, Behrens, Maria Isabel, Slachevsky, Andrea, Myers, Richard M, Cochran, J Nicholas, Brusco, Luis Ignacio, Bruno, Martin A, Brucki, Sonia MD, Pina-Escudero, Stefanie Danielle, Okada de Oliveira, Maira, Donnelly Kehoe, Patricio, Garcia, Adolfo M, Cardona, Juan Felipe, Santamaria-Garcia, Hernando, Moguilner, Sebastian, Duran-Aniotz, Claudia, Tagliazucchi, Enzo, Maito, Marcelo, Longoria Ibarrola, Erika Mariana, Pintado-Caipa, Maritza, Godoy, Maria Eugenia, Bakman, Vera, Javandel, Shireen, Kosik, Kenneth S, Valcour, Victor, Miller, Bruce L, Ibanez, Agustin, Ibanez, Agustin, Yokoyama, Jennifer S, Possin, Katherine L, Matallana, Diana, Lopera, Francisco, Nitrini, Ricardo, Takada, Leonel T, Custodio, Nilton, Sosa Ortiz, Ana Luisa, Avila-Funes, José Alberto, Behrens, Maria Isabel, Slachevsky, Andrea, Myers, Richard M, Cochran, J Nicholas, Brusco, Luis Ignacio, Bruno, Martin A, Brucki, Sonia MD, Pina-Escudero, Stefanie Danielle, Okada de Oliveira, Maira, Donnelly Kehoe, Patricio, Garcia, Adolfo M, Cardona, Juan Felipe, Santamaria-Garcia, Hernando, Moguilner, Sebastian, Duran-Aniotz, Claudia, Tagliazucchi, Enzo, Maito, Marcelo, Longoria Ibarrola, Erika Mariana, Pintado-Caipa, Maritza, Godoy, Maria Eugenia, Bakman, Vera, Javandel, Shireen, Kosik, Kenneth S, Valcour, Victor, and Miller, Bruce L
Abstract: Dementia is becoming increasingly prevalent in Latin America, contrasting with stable or declining rates in North America and Europe. This scenario places unprecedented clinical, social, and economic burden upon patients, families, and health systems. The challenges prove particularly pressing for conditions with highly specific diagnostic and management demands, such as frontotemporal dementia. Here we introduce a research and networking initiative designed to tackle these ensuing hurdles, the Multi-partner consortium to expand dementia research in Latin America (ReDLat). First, we present ReDLat's regional research framework, aimed at identifying the unique genetic, social, and economic factors driving the presentation of frontotemporal dementia and Alzheimer's disease in Latin America relative to the US. We describe ongoing ReDLat studies in various fields and ongoing research extensions. Then, we introduce actions coordinated by ReDLat and the Latin America and Caribbean Consortium on Dementia (LAC-CD) to develop culturally appropriate diagnostic tools, regional visibility and capacity building, diplomatic coordination in local priority areas, and a knowledge-to-action framework toward a regional action plan. Together, these research and networking initiatives will help to establish strong cross-national bonds, support the implementation of regional dementia plans, enhance health systems' infrastructure, and increase translational research collaborations across the continent.
Published: 2021

27. Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Author: Jia, Xiaoming, Jia, Xiaoming, Goes, Fernando S, Locke, Adam E, Palmer, Duncan, Wang, Weiqing, Cohen-Woods, Sarah, Genovese, Giulio, Jackson, Anne U, Jiang, Chen, Kvale, Mark, Mullins, Niamh, Nguyen, Hoang, Pirooznia, Mehdi, Rivera, Margarita, Ruderfer, Douglas M, Shen, Ling, Thai, Khanh, Zawistowski, Matthew, Zhuang, Yongwen, Abecasis, Gonçalo, Akil, Huda, Bergen, Sarah, Burmeister, Margit, Chapman, Sinéad, DelaBastide, Melissa, Juréus, Anders, Kang, Hyun Min, Kwok, Pui-Yan, Li, Jun Z, Levy, Shawn E, Monson, Eric T, Moran, Jennifer, Sobell, Janet, Watson, Stanley, Willour, Virginia, Zöllner, Sebastian, Adolfsson, Rolf, Blackwood, Douglas, Boehnke, Michael, Breen, Gerome, Corvin, Aiden, Craddock, Nick, DiFlorio, Arianna, Hultman, Christina M, Landen, Mikael, Lewis, Cathryn, McCarroll, Steven A, Richard McCombie, W, McGuffin, Peter, McIntosh, Andrew, McQuillin, Andrew, Morris, Derek, Myers, Richard M, O'Donovan, Michael, Ophoff, Roel, Boks, Marco, Kahn, Rene, Ouwehand, Willem, Owen, Michael, Pato, Carlos, Pato, Michele, Posthuma, Danielle, Potash, James B, Reif, Andreas, Sklar, Pamela, Smoller, Jordan, Sullivan, Patrick F, Vincent, John, Walters, James, Neale, Benjamin, Purcell, Shaun, Risch, Neil, Schaefer, Catherine, Stahl, Eli A, Zandi, Peter P, Scott, Laura J, Jia, Xiaoming, Jia, Xiaoming, Goes, Fernando S, Locke, Adam E, Palmer, Duncan, Wang, Weiqing, Cohen-Woods, Sarah, Genovese, Giulio, Jackson, Anne U, Jiang, Chen, Kvale, Mark, Mullins, Niamh, Nguyen, Hoang, Pirooznia, Mehdi, Rivera, Margarita, Ruderfer, Douglas M, Shen, Ling, Thai, Khanh, Zawistowski, Matthew, Zhuang, Yongwen, Abecasis, Gonçalo, Akil, Huda, Bergen, Sarah, Burmeister, Margit, Chapman, Sinéad, DelaBastide, Melissa, Juréus, Anders, Kang, Hyun Min, Kwok, Pui-Yan, Li, Jun Z, Levy, Shawn E, Monson, Eric T, Moran, Jennifer, Sobell, Janet, Watson, Stanley, Willour, Virginia, Zöllner, Sebastian, Adolfsson, Rolf, Blackwood, Douglas, Boehnke, Michael, Breen, Gerome, Corvin, Aiden, Craddock, Nick, DiFlorio, Arianna, Hultman, Christina M, Landen, Mikael, Lewis, Cathryn, McCarroll, Steven A, Richard McCombie, W, McGuffin, Peter, McIntosh, Andrew, McQuillin, Andrew, Morris, Derek, Myers, Richard M, O'Donovan, Michael, Ophoff, Roel, Boks, Marco, Kahn, Rene, Ouwehand, Willem, Owen, Michael, Pato, Carlos, Pato, Michele, Posthuma, Danielle, Potash, James B, Reif, Andreas, Sklar, Pamela, Smoller, Jordan, Sullivan, Patrick F, Vincent, John, Walters, James, Neale, Benjamin, Purcell, Shaun, Risch, Neil, Schaefer, Catherine, Stahl, Eli A, Zandi, Peter P, and Scott, Laura J
Abstract: Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation in BD is not well established. We examined the protein-coding (exonic) sequences of 3,987 unrelated individuals with BD and 5,322 controls of predominantly European ancestry across four cohorts from the Bipolar Sequencing Consortium (BSC). We assessed the burden of rare, protein-altering, single nucleotide variants classified as pathogenic or likely pathogenic (P-LP) both exome-wide and within several groups of genes with phenotypic or biologic plausibility in BD. While we observed an increased burden of rare coding P-LP variants within 165 genes identified as BD GWAS regions in 3,987 BD cases (meta-analysis OR = 1.9, 95% CI = 1.3-2.8, one-sided p = 6.0 × 10-4), this enrichment did not replicate in an additional 9,929 BD cases and 14,018 controls (OR = 0.9, one-side p = 0.70). Although BD shares common variant heritability with schizophrenia, in the BSC sample we did not observe a significant enrichment of P-LP variants in SCZ GWAS genes, in two classes of neuronal synaptic genes (RBFOX2 and FMRP) associated with SCZ or in loss-of-function intolerant genes. In this study, the largest analysis of exonic variation in BD, individuals with BD do not carry a replicable enrichment of rare P-LP variants across the exome or in any of several groups of genes with biologic plausibility. Moreover, despite a strong shared susceptibility between BD and SCZ through common genetic variation, we do not observe an association between BD risk and rare P-LP coding variants in genes known to modulate risk for SCZ.
Published: 2021

28. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Author: Mullins, Niamh, Forstner, Andreas J., O'Connell, Kevin S., Coombes, Brandon, Coleman, Jonathan R., I, Qiao, Zhen, Als, Thomas D., Bigdeli, Tim B., Borte, Sigrid, Bryois, Julien, Charney, Alexander W., Drange, Ole Kristian, Gandal, Michael J., Hagenaars, Saskia P., Ikeda, Masashi, Kamitaki, Nolan, Kim, Minsoo, Krebs, Kristi, Panagiotaropoulou, Georgia, Schilder, Brian M., Sloofman, Laura G., Steinberg, Stacy, Trubetskoy, Vassily, Winsvold, Bendik S., Won, Hong-Hee, Abramova, Liliya, Adorjan, Kristina, Agerbo, Esben, Al Eissa, Mariam, Albani, Diego, Alliey-Rodriguez, Ney, Anjorin, Adebayo, Antilla, Verneri, Antoniou, Anastasia, Awasthi, Swapnil, Baek, Ji Hyun, Baekvad-Hansen, Marie, Bass, Nicholas, Bauer, Michael, Beins, Eva C., Bergen, Sarah E., Birner, Armin, Pedersen, Carsten Bocker, Boen, Erlend, Boks, Marco P., Bosch, Rosa, Brum, Murielle, Brumpton, Ben M., Brunkhorst-Kanaan, Nathalie, Budde, Monika, Bybjerg-Grauholm, Jonas, Byerley, William, Cairns, Murray, Casas, Miquel, Cervantes, Pablo, Clarke, Toni-Kim, Cruceanu, Cristiana, Cuellar-Barboza, Alfredo, Cunningham, Julie, Curtis, David, Czerski, Piotr M., Dale, Anders M., Dalkner, Nina, David, Friederike S., Degenhardt, Franziska, Djurovic, Srdjan, Dobbyn, Amanda L., Douzenis, Athanassios, Elvsashagen, Torbjorn, Escott-Price, Valentina, Ferrier, I. Nicol, Fiorentino, Alessia, Foroud, Tatiana M., Forty, Liz, Frank, Josef, Frei, Oleksandr, Freimer, Nelson B., Frisen, Louise, Gade, Katrin, Garnham, Julie, Gelernter, Joel, Pedersen, Marianne Giortz, Gizer, Ian R., Gordon, Scott D., Gordon-Smith, Katherine, Greenwood, Tiffany A., Grove, Jakob, Guzman-Parra, Jose, Ha, Kyooseob, Haraldsson, Magnus, Hautzinger, Martin, Heilbronner, Urs, Hellgren, Dennis, Herms, Stefan, Hoffmann, Per, Holmans, Peter A., Huckins, Laura, Jamain, Stephane, Johnson, Jessica S., Kalman, Janos L., Kamatani, Yoichiro, Kennedy, James L., Kittel-Schneider, Sarah, Knowles, James A., Kogevinas, Manolis, Koromina, Maria, Kranz, Thorsten M., Kranzler, Henry R., Kubo, Michiaki, Kupka, Ralph, Kushner, Steven A., Lavebratt, Catharina, Lawrence, Jacob, Leber, Markus, Lee, Heon-Jeong, Lee, Phil H., Levy, Shawn E., Lewis, Catrin, Liao, Calwing, Lucae, Susanne, Lundberg, Martin, MacIntyre, Donald J., Maier, Wolfgang, Maihofer, Adam, Malaspina, Dolores, Maratou, Eirini, Martinsson, Lina, Mattheisen, Manuel, McCarroll, Steven A., McGregor, Nathaniel W., McGuffin, Peter, McKay, James D., Medeiros, Helena, Medland, Sarah E., Millischer, Vincent, Montgomery, Grant W., Moran, Jennifer L., Morris, Derek W., Muhleisen, Thomas W., O'Brien, Niamh, O'Donovan, Claire, Loohuis, Loes M. Olde, Oruc, Lilijana, Papiol, Sergi, Pardinas, Antonio F., Perry, Amy, Pfennig, Andrea, Porichi, Evgenia, Potash, James B., Quested, Digby, Raj, Towfique, Rapaport, Mark H., DePaulo, J. Raymond, Regeer, Eline J., Rice, John P., Rivas, Fabio, Rivera, Margarita, Roth, Julian, Roussos, Panos, Ruderfer, Douglas M., Sanchez-Mora, Cristina, Schulte, Eva C., Senner, Fanny, Sharp, Sally, Shilling, Paul D., Sigurdsson, Engilbert, Sirignano, Lea, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Soholm, Artigas, Maria Soler, Spijker, Anne T., Stein, Dan J., Strauss, John S., Swiatkowska, Beata, Terao, Chikashi, Thorgeirsson, Thorgeir E., Toma, Claudio, Tooney, Paul, Tsermpini, Evangelia-Eirini, Vawter, Marquis P., Vedder, Helmut, Walters, James T. R., Witt, Stephanie H., Xi, Simon, Xu, Wei, Yang, Jessica Mei Kay, Young, Allan H., Young, Hannah, Zandi, Peter P., Zhou, Hang, Zillich, Lea, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Alfredsson, Lars, Babadjanova, Gulja, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Bengesser, Susanne, Berrettini, Wade H., Blackwood, Douglas H. R., Boehnke, Michael, Borglum, Anders D., Breen, Gerome, Carr, Vaughan J., Catts, Stanley, Corvin, Aiden, Craddock, Nicholas, Dannlowski, Udo, Dikeos, Dimitris, Esko, Tonu, Etain, Bruno, Ferentinos, Panagiotis, Frye, Mark, Fullerton, Janice M., Gawlik, Micha, Gershon, Elliot S., Goes, Fernando, Green, Melissa J., Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Henskens, Frans, Hillert, Jan, Hong, Kyung Sue, Hougaard, David M., Hultman, Christina M., Hveem, Kristian, Iwata, Nakao, Jablensky, Assen, V, Jones, Ian, Jones, Lisa A., Kahn, Rene S., Kelsoe, John R., Kirov, George, Landen, Mikael, Leboyer, Marion, Lewis, Cathryn M., Li, Qingqin S., Lissowska, Jolanta, Lochner, Christine, Loughland, Carmel, Martin, Nicholas G., Mathews, Carol A., Mayoral, Fermin, McElroy, Susan L., McIntosh, Andrew M., McMahon, Francis J., Melle, Ingrid, Michie, Patricia, Milani, Lili, Mitchell, Philip B., Morken, Gunnar, Mors, Ole, Mortensen, Preben Bo, Mowry, Bryan, Muller-Myhsok, Bertram, Myers, Richard M., Neale, Benjamin M., Nievergelt, Caroline M., Nordentoft, Merete, Nothen, Markus M., ODonovan, Michael C., Oedegaard, Ketil J., Olsson, Tomas, Owen, Michael J., Paciga, Sara A., Pantelis, Chris, Pato, Carlos, Pato, Michele T., Patrinos, George P., Perlis, Roy H., Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Reininghaus, Eva Z., Ribases, Marta, Rietschel, Marcella, Ripke, Stephan, Rouleau, Guy A., Saito, Takeo, Schall, Ulrich, Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Scott, Laura J., Scott, Rodney J., Serretti, Alessandro, Weickert, Cynthia Shannon, Smoller, Jordan W., Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Streit, Fabian, Sullivan, Patrick F., Turecki, Gustavo, Vaaler, Arne E., Vieta, Eduard, Vincent, John B., Waldman, Irwin D., Weickert, Thomas W., Werge, Thomas, Wray, Naomi R., Zwart, JohnAnker, Biernacka, Joanna M., Nurnberger, John, I, Cichon, Sven, Edenberg, Howard J., Stahl, Eli A., McQuillin, Andrew, Di Florio, Arianna, Ophoff, Roel A., Andreassen, Ole A., Mullins, Niamh, Forstner, Andreas J., O'Connell, Kevin S., Coombes, Brandon, Coleman, Jonathan R., I, Qiao, Zhen, Als, Thomas D., Bigdeli, Tim B., Borte, Sigrid, Bryois, Julien, Charney, Alexander W., Drange, Ole Kristian, Gandal, Michael J., Hagenaars, Saskia P., Ikeda, Masashi, Kamitaki, Nolan, Kim, Minsoo, Krebs, Kristi, Panagiotaropoulou, Georgia, Schilder, Brian M., Sloofman, Laura G., Steinberg, Stacy, Trubetskoy, Vassily, Winsvold, Bendik S., Won, Hong-Hee, Abramova, Liliya, Adorjan, Kristina, Agerbo, Esben, Al Eissa, Mariam, Albani, Diego, Alliey-Rodriguez, Ney, Anjorin, Adebayo, Antilla, Verneri, Antoniou, Anastasia, Awasthi, Swapnil, Baek, Ji Hyun, Baekvad-Hansen, Marie, Bass, Nicholas, Bauer, Michael, Beins, Eva C., Bergen, Sarah E., Birner, Armin, Pedersen, Carsten Bocker, Boen, Erlend, Boks, Marco P., Bosch, Rosa, Brum, Murielle, Brumpton, Ben M., Brunkhorst-Kanaan, Nathalie, Budde, Monika, Bybjerg-Grauholm, Jonas, Byerley, William, Cairns, Murray, Casas, Miquel, Cervantes, Pablo, Clarke, Toni-Kim, Cruceanu, Cristiana, Cuellar-Barboza, Alfredo, Cunningham, Julie, Curtis, David, Czerski, Piotr M., Dale, Anders M., Dalkner, Nina, David, Friederike S., Degenhardt, Franziska, Djurovic, Srdjan, Dobbyn, Amanda L., Douzenis, Athanassios, Elvsashagen, Torbjorn, Escott-Price, Valentina, Ferrier, I. Nicol, Fiorentino, Alessia, Foroud, Tatiana M., Forty, Liz, Frank, Josef, Frei, Oleksandr, Freimer, Nelson B., Frisen, Louise, Gade, Katrin, Garnham, Julie, Gelernter, Joel, Pedersen, Marianne Giortz, Gizer, Ian R., Gordon, Scott D., Gordon-Smith, Katherine, Greenwood, Tiffany A., Grove, Jakob, Guzman-Parra, Jose, Ha, Kyooseob, Haraldsson, Magnus, Hautzinger, Martin, Heilbronner, Urs, Hellgren, Dennis, Herms, Stefan, Hoffmann, Per, Holmans, Peter A., Huckins, Laura, Jamain, Stephane, Johnson, Jessica S., Kalman, Janos L., Kamatani, Yoichiro, Kennedy, James L., Kittel-Schneider, Sarah, Knowles, James A., Kogevinas, Manolis, Koromina, Maria, Kranz, Thorsten M., Kranzler, Henry R., Kubo, Michiaki, Kupka, Ralph, Kushner, Steven A., Lavebratt, Catharina, Lawrence, Jacob, Leber, Markus, Lee, Heon-Jeong, Lee, Phil H., Levy, Shawn E., Lewis, Catrin, Liao, Calwing, Lucae, Susanne, Lundberg, Martin, MacIntyre, Donald J., Maier, Wolfgang, Maihofer, Adam, Malaspina, Dolores, Maratou, Eirini, Martinsson, Lina, Mattheisen, Manuel, McCarroll, Steven A., McGregor, Nathaniel W., McGuffin, Peter, McKay, James D., Medeiros, Helena, Medland, Sarah E., Millischer, Vincent, Montgomery, Grant W., Moran, Jennifer L., Morris, Derek W., Muhleisen, Thomas W., O'Brien, Niamh, O'Donovan, Claire, Loohuis, Loes M. Olde, Oruc, Lilijana, Papiol, Sergi, Pardinas, Antonio F., Perry, Amy, Pfennig, Andrea, Porichi, Evgenia, Potash, James B., Quested, Digby, Raj, Towfique, Rapaport, Mark H., DePaulo, J. Raymond, Regeer, Eline J., Rice, John P., Rivas, Fabio, Rivera, Margarita, Roth, Julian, Roussos, Panos, Ruderfer, Douglas M., Sanchez-Mora, Cristina, Schulte, Eva C., Senner, Fanny, Sharp, Sally, Shilling, Paul D., Sigurdsson, Engilbert, Sirignano, Lea, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Soholm, Artigas, Maria Soler, Spijker, Anne T., Stein, Dan J., Strauss, John S., Swiatkowska, Beata, Terao, Chikashi, Thorgeirsson, Thorgeir E., Toma, Claudio, Tooney, Paul, Tsermpini, Evangelia-Eirini, Vawter, Marquis P., Vedder, Helmut, Walters, James T. R., Witt, Stephanie H., Xi, Simon, Xu, Wei, Yang, Jessica Mei Kay, Young, Allan H., Young, Hannah, Zandi, Peter P., Zhou, Hang, Zillich, Lea, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Alfredsson, Lars, Babadjanova, Gulja, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Bengesser, Susanne, Berrettini, Wade H., Blackwood, Douglas H. R., Boehnke, Michael, Borglum, Anders D., Breen, Gerome, Carr, Vaughan J., Catts, Stanley, Corvin, Aiden, Craddock, Nicholas, Dannlowski, Udo, Dikeos, Dimitris, Esko, Tonu, Etain, Bruno, Ferentinos, Panagiotis, Frye, Mark, Fullerton, Janice M., Gawlik, Micha, Gershon, Elliot S., Goes, Fernando, Green, Melissa J., Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Henskens, Frans, Hillert, Jan, Hong, Kyung Sue, Hougaard, David M., Hultman, Christina M., Hveem, Kristian, Iwata, Nakao, Jablensky, Assen, V, Jones, Ian, Jones, Lisa A., Kahn, Rene S., Kelsoe, John R., Kirov, George, Landen, Mikael, Leboyer, Marion, Lewis, Cathryn M., Li, Qingqin S., Lissowska, Jolanta, Lochner, Christine, Loughland, Carmel, Martin, Nicholas G., Mathews, Carol A., Mayoral, Fermin, McElroy, Susan L., McIntosh, Andrew M., McMahon, Francis J., Melle, Ingrid, Michie, Patricia, Milani, Lili, Mitchell, Philip B., Morken, Gunnar, Mors, Ole, Mortensen, Preben Bo, Mowry, Bryan, Muller-Myhsok, Bertram, Myers, Richard M., Neale, Benjamin M., Nievergelt, Caroline M., Nordentoft, Merete, Nothen, Markus M., ODonovan, Michael C., Oedegaard, Ketil J., Olsson, Tomas, Owen, Michael J., Paciga, Sara A., Pantelis, Chris, Pato, Carlos, Pato, Michele T., Patrinos, George P., Perlis, Roy H., Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Reininghaus, Eva Z., Ribases, Marta, Rietschel, Marcella, Ripke, Stephan, Rouleau, Guy A., Saito, Takeo, Schall, Ulrich, Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Scott, Laura J., Scott, Rodney J., Serretti, Alessandro, Weickert, Cynthia Shannon, Smoller, Jordan W., Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Streit, Fabian, Sullivan, Patrick F., Turecki, Gustavo, Vaaler, Arne E., Vieta, Eduard, Vincent, John B., Waldman, Irwin D., Weickert, Thomas W., Werge, Thomas, Wray, Naomi R., Zwart, JohnAnker, Biernacka, Joanna M., Nurnberger, John, I, Cichon, Sven, Edenberg, Howard J., Stahl, Eli A., McQuillin, Andrew, Di Florio, Arianna, Ophoff, Roel A., and Andreassen, Ole A.
Abstract: Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies. Genome-wide association analyses of 41,917 bipolar disorder cases and 371,549 controls of European ancestry provide new insights into the etiology of this disorder and identify novel therapeutic leads and potential opportunities for drug repurposing.
Published: 2021

29. Multi-tissue integrative analysis of personal epigenomes

Author: Rozowsky, Joel, Drenkow, Jorg, Yang, Yucheng, Gursoy, Gamze, Galeev, Timur, Borsari, Beatrice, Epstein, Charles, Xiong, Kun, Xu, Jinrui, Gao, Jiahao, Yu, Keyang, Berthel, Ana, Chen, Zhanlin, Navarro, Fabio, Liu, Jason, Sun, Maxwell, Wright, James, Chang, Justin, Cameron, Christopher, Shoresh, Noam, Gaskell, Elizabeth, Adrian, Jessika, Aganezov, Sergey, Balderrama-Gutierrez, Gabriela, Banskota, Samridhi, Corona, Guillermo, Chee, Sora, Chhetri, Surya, Martins, Gabriel, Danyko, Cassidy, Davis, Carrie, Farid, Daniel, Farrell, Nina, Gabdank, Idan, Gofin, Yoel, Gorkin, David, Gu, Mengting, Hecht, Vivian, Hitz, Benjamin, Issner, Robbyn, Kirsche, Melanie, Kong, Xiangmeng, Lam, Bonita, Li, Shantao, Li, Bian, Li, Tianxiao, Li, Xiqi, Lin, Khine, Luo, Ruibang, Mackiewicz, Mark, Moore, Jill, Mudge, Jonathan, Nelson, Nicholas, Nusbaum, Chad, Popov, Ioann, Pratt, Henry, Qiu, Yunjiang, Ramakrishnan, Srividya, Raymond, Joe, Salichos, Leonidas, Scavelli, Alexandra, Schreiber, Jacob, Sedlazeck, Fritz, See, Lei, Sherman, Rachel, Shi, Xu, Shi, Minyi, Sloan, Cricket, Strattan, J. Seth, Tan, Zhen, Tanaka, Forrest, Vlasova, Anna, Wang, Jun, Werner, Jonathan, Williams, Brian, Xu, Min, Yan, Chengfei, Yu, Lu, Zaleski, Christopher, Zhang, Jing, Cherry, J. Michael, Mendenhall, Eric, Noble, William, Weng, Zhiping, Levine, Morgan, Dobin, Alexander, Wold, Barbara, Mortazavi, Ali, Ren, Bing, Gillis, Jesse, Myers, Richard, Snyder, Michael, Choudhary, Jyoti, Milosavljevic, Aleksandar, Schatz, Michael, Guigo, Roderic, Bernstein, Bradley, Gingeras, Thomas, Gerstein, Mark, Rozowsky, Joel, Drenkow, Jorg, Yang, Yucheng, Gursoy, Gamze, Galeev, Timur, Borsari, Beatrice, Epstein, Charles, Xiong, Kun, Xu, Jinrui, Gao, Jiahao, Yu, Keyang, Berthel, Ana, Chen, Zhanlin, Navarro, Fabio, Liu, Jason, Sun, Maxwell, Wright, James, Chang, Justin, Cameron, Christopher, Shoresh, Noam, Gaskell, Elizabeth, Adrian, Jessika, Aganezov, Sergey, Balderrama-Gutierrez, Gabriela, Banskota, Samridhi, Corona, Guillermo, Chee, Sora, Chhetri, Surya, Martins, Gabriel, Danyko, Cassidy, Davis, Carrie, Farid, Daniel, Farrell, Nina, Gabdank, Idan, Gofin, Yoel, Gorkin, David, Gu, Mengting, Hecht, Vivian, Hitz, Benjamin, Issner, Robbyn, Kirsche, Melanie, Kong, Xiangmeng, Lam, Bonita, Li, Shantao, Li, Bian, Li, Tianxiao, Li, Xiqi, Lin, Khine, Luo, Ruibang, Mackiewicz, Mark, Moore, Jill, Mudge, Jonathan, Nelson, Nicholas, Nusbaum, Chad, Popov, Ioann, Pratt, Henry, Qiu, Yunjiang, Ramakrishnan, Srividya, Raymond, Joe, Salichos, Leonidas, Scavelli, Alexandra, Schreiber, Jacob, Sedlazeck, Fritz, See, Lei, Sherman, Rachel, Shi, Xu, Shi, Minyi, Sloan, Cricket, Strattan, J. Seth, Tan, Zhen, Tanaka, Forrest, Vlasova, Anna, Wang, Jun, Werner, Jonathan, Williams, Brian, Xu, Min, Yan, Chengfei, Yu, Lu, Zaleski, Christopher, Zhang, Jing, Cherry, J. Michael, Mendenhall, Eric, Noble, William, Weng, Zhiping, Levine, Morgan, Dobin, Alexander, Wold, Barbara, Mortazavi, Ali, Ren, Bing, Gillis, Jesse, Myers, Richard, Snyder, Michael, Choudhary, Jyoti, Milosavljevic, Aleksandar, Schatz, Michael, Guigo, Roderic, Bernstein, Bradley, Gingeras, Thomas, and Gerstein, Mark
Abstract: Evaluating the impact of genetic variants on transcriptional regulation is a central goal in biological science that has been constrained by reliance on a single reference genome. To address this, we constructed phased, diploid genomes for four cadaveric donors (using long-read sequencing) and systematically charted noncoding regulatory elements and transcriptional activity across more than 25 tissues from these donors. Integrative analysis revealed over a million variants with allele-specific activity, coordinated, locus-scale allelic imbalances, and structural variants impacting proximal chromatin structure. We relate the personal genome analysis to the ENCODE encyclopedia, annotating allele- and tissue-specific elements that are strongly enriched for variants impacting expression and disease phenotypes. These experimental and statistical approaches, and the corresponding EN-TEx resource, provide a framework for personalized functional genomics.
Published: 2021

30. Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.

Author: Lai, Dongbing, Lai, Dongbing, Alipanahi, Babak, Fontanillas, Pierre, Schwantes-An, Tae-Hwi, Aasly, Jan, Alcalay, Roy N, Beecham, Gary W, Berg, Daniela, Bressman, Susan, Brice, Alexis, Brockman, Kathrin, Clark, Lorraine, Cookson, Mark, Das, Sayantan, Van Deerlin, Vivianna, Follett, Jordan, Farrer, Matthew J, Trinh, Joanne, Gasser, Thomas, Goldwurm, Stefano, Gustavsson, Emil, Klein, Christine, Lang, Anthony E, Langston, J William, Latourelle, Jeanne, Lynch, Timothy, Marder, Karen, Marras, Connie, Martin, Eden R, McLean, Cory Y, Mejia-Santana, Helen, Molho, Eric, Myers, Richard H, Nuytemans, Karen, Ozelius, Laurie, Payami, Haydeh, Raymond, Deborah, Rogaeva, Ekaterina, Rogers, Michael P, Ross, Owen A, Samii, Ali, Saunders-Pullman, Rachel, Schüle, Birgitt, Schulte, Claudia, Scott, William K, Tanner, Caroline, Tolosa, Eduardo, Tomkins, James E, Vilas, Dolores, Trojanowski, John Q, 23andMe Research Team, Uitti, Ryan, Vance, Jeffery M, Visanji, Naomi P, Wszolek, Zbigniew K, Zabetian, Cyrus P, Mirelman, Anat, Giladi, Nir, Orr Urtreger, Avi, Cannon, Paul, Fiske, Brian, Foroud, Tatiana, Lai, Dongbing, Lai, Dongbing, Alipanahi, Babak, Fontanillas, Pierre, Schwantes-An, Tae-Hwi, Aasly, Jan, Alcalay, Roy N, Beecham, Gary W, Berg, Daniela, Bressman, Susan, Brice, Alexis, Brockman, Kathrin, Clark, Lorraine, Cookson, Mark, Das, Sayantan, Van Deerlin, Vivianna, Follett, Jordan, Farrer, Matthew J, Trinh, Joanne, Gasser, Thomas, Goldwurm, Stefano, Gustavsson, Emil, Klein, Christine, Lang, Anthony E, Langston, J William, Latourelle, Jeanne, Lynch, Timothy, Marder, Karen, Marras, Connie, Martin, Eden R, McLean, Cory Y, Mejia-Santana, Helen, Molho, Eric, Myers, Richard H, Nuytemans, Karen, Ozelius, Laurie, Payami, Haydeh, Raymond, Deborah, Rogaeva, Ekaterina, Rogers, Michael P, Ross, Owen A, Samii, Ali, Saunders-Pullman, Rachel, Schüle, Birgitt, Schulte, Claudia, Scott, William K, Tanner, Caroline, Tolosa, Eduardo, Tomkins, James E, Vilas, Dolores, Trojanowski, John Q, 23andMe Research Team, Uitti, Ryan, Vance, Jeffery M, Visanji, Naomi P, Wszolek, Zbigniew K, Zabetian, Cyrus P, Mirelman, Anat, Giladi, Nir, Orr Urtreger, Avi, Cannon, Paul, Fiske, Brian, and Foroud, Tatiana
Abstract: ObjectiveThe aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease.MethodsWe performed the first genomewide association study of penetrance and age-at-onset of Parkinson's disease in LRRK2 mutation carriers (776 cases and 1,103 non-cases at their last evaluation). Cox proportional hazard models and linear mixed models were used to identify modifiers of penetrance and age-at-onset of LRRK2 mutations, respectively. We also investigated whether a polygenic risk score derived from a published genomewide association study of Parkinson's disease was able to explain variability in penetrance and age-at-onset in LRRK2 mutation carriers.ResultsA variant located in the intronic region of CORO1C on chromosome 12 (rs77395454; p value = 2.5E-08, beta = 1.27, SE = 0.23, risk allele: C) met genomewide significance for the penetrance model. Co-immunoprecipitation analyses of LRRK2 and CORO1C supported an interaction between these 2 proteins. A region on chromosome 3, within a previously reported linkage peak for Parkinson's disease susceptibility, showed suggestive associations in both models (penetrance top variant: p value = 1.1E-07; age-at-onset top variant: p value = 9.3E-07). A polygenic risk score derived from publicly available Parkinson's disease summary statistics was a significant predictor of penetrance, but not of age-at-onset.InterpretationThis study suggests that variants within or near CORO1C may modify the penetrance of LRRK2 mutations. In addition, common Parkinson's disease associated variants collectively increase the penetrance of LRRK2 mutations. ANN NEUROL 2021;90:82-94.
Published: 2021

31. Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England

Author: Volz, Erik, Mishra, Swapnil, Chand, Meera, Barrett, Jeffrey C., Johnson, Robert, Geidelberg, Lily, Hinsley, Wes R., Laydon, Daniel J., Dabrera, Gavin, O’Toole, Áine, Amato, Robert, Ragonnet-Cronin, Manon, Harrison, Ian, Jackson, Ben, Ariani, Cristina V., Boyd, Olivia, Loman, Nicholas J., McCrone, John T., Gonçalves, Sónia, Jørgensen, David, Myers, Richard, Hill, Verity, Jackson, David K., Gaythorpe, Katy, Groves, Natalie, Sillitoe, John, Kwiatkowski, Dominic P., Flaxman, Seth, Ratmann, Oliver, Bhatt, Samir, Hopkins, Susan, Gandy, Axel, Rambaut, Andrew, Ferguson, Neil M., Volz, Erik, Mishra, Swapnil, Chand, Meera, Barrett, Jeffrey C., Johnson, Robert, Geidelberg, Lily, Hinsley, Wes R., Laydon, Daniel J., Dabrera, Gavin, O’Toole, Áine, Amato, Robert, Ragonnet-Cronin, Manon, Harrison, Ian, Jackson, Ben, Ariani, Cristina V., Boyd, Olivia, Loman, Nicholas J., McCrone, John T., Gonçalves, Sónia, Jørgensen, David, Myers, Richard, Hill, Verity, Jackson, David K., Gaythorpe, Katy, Groves, Natalie, Sillitoe, John, Kwiatkowski, Dominic P., Flaxman, Seth, Ratmann, Oliver, Bhatt, Samir, Hopkins, Susan, Gandy, Axel, Rambaut, Andrew, and Ferguson, Neil M.
Published: 2021

32. Expanded encyclopaedias of DNA elements in the human and mouse genomes

Author: Moore, Jill E., Purcaro, Michael J., Pratt, Henry E., Epstein, Charles B., Shoresh, Noam, Adrian, Jessika, Kawli, Trupti, Davis, Carrie A., Dobin, Alexander, Kaul, Rajinder, Halow, Jessica, Van Nostrand, Eric L., Freese, Peter Dale, Gorkin, David U., Shen, Yin, He, Yupeng, Mackiewicz, Mark, Pauli-Behn, Florencia, Williams, Brian A., Mortazavi, Ali, Keller, Cheryl A., Zhang, Xiao-Ou, Elhajjajy, Shaimae I., Huey, Jack, Dickel, Diane E., Snetkova, Valentina, Wei, Xintao, Wang, Xiaofeng, Rivera-Mulia, Juan Carlos, Rozowsky, Joel, Zhang, Jing, Chhetri, Surya B., Zhang, Jialing, Victorsen, Alec, White, Kevin P., Visel, Axel, Yeo, Gene W., Burge, Christopher B, Lécuyer, Eric, Gilbert, David M., Dekker, Job, Rinn, John, Mendenhall, Eric M., Ecker, Joseph R., Kellis, Manolis, Klein, Robert J., Noble, William S., Kundaje, Anshul, Guigó, Roderic, Farnham, Peggy J., Cherry, J. Michael, Myers, Richard M., Ren, Bing, Graveley, Brenton R., Gerstein, Mark B., Pennacchio, Len A., Snyder, Michael P., Bernstein, Bradley E., Wold, Barbara, Hardison, Ross C., Gingeras, Thomas R., Stamatoyannopoulos, John A., Weng, Zhiping, Moore, Jill E., Purcaro, Michael J., Pratt, Henry E., Epstein, Charles B., Shoresh, Noam, Adrian, Jessika, Kawli, Trupti, Davis, Carrie A., Dobin, Alexander, Kaul, Rajinder, Halow, Jessica, Van Nostrand, Eric L., Freese, Peter Dale, Gorkin, David U., Shen, Yin, He, Yupeng, Mackiewicz, Mark, Pauli-Behn, Florencia, Williams, Brian A., Mortazavi, Ali, Keller, Cheryl A., Zhang, Xiao-Ou, Elhajjajy, Shaimae I., Huey, Jack, Dickel, Diane E., Snetkova, Valentina, Wei, Xintao, Wang, Xiaofeng, Rivera-Mulia, Juan Carlos, Rozowsky, Joel, Zhang, Jing, Chhetri, Surya B., Zhang, Jialing, Victorsen, Alec, White, Kevin P., Visel, Axel, Yeo, Gene W., Burge, Christopher B, Lécuyer, Eric, Gilbert, David M., Dekker, Job, Rinn, John, Mendenhall, Eric M., Ecker, Joseph R., Kellis, Manolis, Klein, Robert J., Noble, William S., Kundaje, Anshul, Guigó, Roderic, Farnham, Peggy J., Cherry, J. Michael, Myers, Richard M., Ren, Bing, Graveley, Brenton R., Gerstein, Mark B., Pennacchio, Len A., Snyder, Michael P., Bernstein, Bradley E., Wold, Barbara, Hardison, Ross C., Gingeras, Thomas R., Stamatoyannopoulos, John A., and Weng, Zhiping
Abstract: The human and mouse genomes contain instructions that specify RNAs and proteins and govern the timing, magnitude, and cellular context of their production. To better delineate these elements, phase III of the Encyclopedia of DNA Elements (ENCODE) Project has expanded analysis of the cell and tissue repertoires of RNA transcription, chromatin structure and modification, DNA methylation, chromatin looping, and occupancy by transcription factors and RNA-binding proteins. Here we summarize these efforts, which have produced 5,992 new experimental datasets, including systematic determinations across mouse fetal development. All data are available through the ENCODE data portal (https://www.encodeproject.org), including phase II ENCODE1 and Roadmap Epigenomics2 data. We have developed a registry of 926,535 human and 339,815 mouse candidate cis-regulatory elements, covering 7.9 and 3.4% of their respective genomes, by integrating selected datatypes associated with gene regulation, and constructed a web-based server (SCREEN; http://screen.encodeproject.org) to provide flexible, user-defined access to this resource. Collectively, the ENCODE data and registry provide an expansive resource for the scientific community to build a better understanding of the organization and function of the human and mouse genomes., NIH (Grants U01HG007019, U01HG007033, U01HG007036, U01HG007037, U41HG006992, U41HG006993, U41HG006994, U41HG006995, U41HG006996, U41HG006997, U41HG006998, U41HG006999, U41HG007000, U41HG007001, U41HG007002, U41HG007003, U54HG006991, U54HG006997, U54HG006998, U54HG007004, U54HG007005, U54HG007010 and UM1HG009442)
Published: 2021

33. Expanded encyclopaedias of DNA elements in the human and mouse genomes.

Author: ENCODE Project Consortium, ENCODE Project Consortium, Moore, Jill E, Purcaro, Michael J, Pratt, Henry E, Epstein, Charles B, Shoresh, Noam, Adrian, Jessika, Kawli, Trupti, Davis, Carrie A, Dobin, Alexander, Kaul, Rajinder, Halow, Jessica, Van Nostrand, Eric L, Freese, Peter, Gorkin, David U, Shen, Yin, He, Yupeng, Mackiewicz, Mark, Pauli-Behn, Florencia, Williams, Brian A, Mortazavi, Ali, Keller, Cheryl A, Zhang, Xiao-Ou, Elhajjajy, Shaimae I, Huey, Jack, Dickel, Diane E, Snetkova, Valentina, Wei, Xintao, Wang, Xiaofeng, Rivera-Mulia, Juan Carlos, Rozowsky, Joel, Zhang, Jing, Chhetri, Surya B, Zhang, Jialing, Victorsen, Alec, White, Kevin P, Visel, Axel, Yeo, Gene W, Burge, Christopher B, Lécuyer, Eric, Gilbert, David M, Dekker, Job, Rinn, John, Mendenhall, Eric M, Ecker, Joseph R, Kellis, Manolis, Klein, Robert J, Noble, William S, Kundaje, Anshul, Guigó, Roderic, Farnham, Peggy J, Cherry, J Michael, Myers, Richard M, Ren, Bing, Graveley, Brenton R, Gerstein, Mark B, Pennacchio, Len A, Snyder, Michael P, Bernstein, Bradley E, Wold, Barbara, Hardison, Ross C, Gingeras, Thomas R, Stamatoyannopoulos, John A, Weng, Zhiping, ENCODE Project Consortium, ENCODE Project Consortium, Moore, Jill E, Purcaro, Michael J, Pratt, Henry E, Epstein, Charles B, Shoresh, Noam, Adrian, Jessika, Kawli, Trupti, Davis, Carrie A, Dobin, Alexander, Kaul, Rajinder, Halow, Jessica, Van Nostrand, Eric L, Freese, Peter, Gorkin, David U, Shen, Yin, He, Yupeng, Mackiewicz, Mark, Pauli-Behn, Florencia, Williams, Brian A, Mortazavi, Ali, Keller, Cheryl A, Zhang, Xiao-Ou, Elhajjajy, Shaimae I, Huey, Jack, Dickel, Diane E, Snetkova, Valentina, Wei, Xintao, Wang, Xiaofeng, Rivera-Mulia, Juan Carlos, Rozowsky, Joel, Zhang, Jing, Chhetri, Surya B, Zhang, Jialing, Victorsen, Alec, White, Kevin P, Visel, Axel, Yeo, Gene W, Burge, Christopher B, Lécuyer, Eric, Gilbert, David M, Dekker, Job, Rinn, John, Mendenhall, Eric M, Ecker, Joseph R, Kellis, Manolis, Klein, Robert J, Noble, William S, Kundaje, Anshul, Guigó, Roderic, Farnham, Peggy J, Cherry, J Michael, Myers, Richard M, Ren, Bing, Graveley, Brenton R, Gerstein, Mark B, Pennacchio, Len A, Snyder, Michael P, Bernstein, Bradley E, Wold, Barbara, Hardison, Ross C, Gingeras, Thomas R, Stamatoyannopoulos, John A, and Weng, Zhiping
Abstract: The human and mouse genomes contain instructions that specify RNAs and proteins and govern the timing, magnitude, and cellular context of their production. To better delineate these elements, phase III of the Encyclopedia of DNA Elements (ENCODE) Project has expanded analysis of the cell and tissue repertoires of RNA transcription, chromatin structure and modification, DNA methylation, chromatin looping, and occupancy by transcription factors and RNA-binding proteins. Here we summarize these efforts, which have produced 5,992 new experimental datasets, including systematic determinations across mouse fetal development. All data are available through the ENCODE data portal (https://www.encodeproject.org), including phase II ENCODE1 and Roadmap Epigenomics2 data. We have developed a registry of 926,535 human and 339,815 mouse candidate cis-regulatory elements, covering 7.9 and 3.4% of their respective genomes, by integrating selected datatypes associated with gene regulation, and constructed a web-based server (SCREEN; http://screen.encodeproject.org) to provide flexible, user-defined access to this resource. Collectively, the ENCODE data and registry provide an expansive resource for the scientific community to build a better understanding of the organization and function of the human and mouse genomes.
Published: 2020

34. Perspectives on ENCODE.

Author: ENCODE Project Consortium, ENCODE Project Consortium, Snyder, Michael P, Gingeras, Thomas R, Moore, Jill E, Weng, Zhiping, Gerstein, Mark B, Ren, Bing, Hardison, Ross C, Stamatoyannopoulos, John A, Graveley, Brenton R, Feingold, Elise A, Pazin, Michael J, Pagan, Michael, Gilchrist, Daniel A, Hitz, Benjamin C, Cherry, J Michael, Bernstein, Bradley E, Mendenhall, Eric M, Zerbino, Daniel R, Frankish, Adam, Flicek, Paul, Myers, Richard M, ENCODE Project Consortium, ENCODE Project Consortium, Snyder, Michael P, Gingeras, Thomas R, Moore, Jill E, Weng, Zhiping, Gerstein, Mark B, Ren, Bing, Hardison, Ross C, Stamatoyannopoulos, John A, Graveley, Brenton R, Feingold, Elise A, Pazin, Michael J, Pagan, Michael, Gilchrist, Daniel A, Hitz, Benjamin C, Cherry, J Michael, Bernstein, Bradley E, Mendenhall, Eric M, Zerbino, Daniel R, Frankish, Adam, Flicek, Paul, and Myers, Richard M
Abstract: The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term goal of developing a comprehensive map of functional elements in the human genome. These included genes, biochemical regions associated with gene regulation (for example, transcription factor binding sites, open chromatin, and histone marks) and transcript isoforms. The marks serve as sites for candidate cis-regulatory elements (cCREs) that may serve functional roles in regulating gene expression1. The project has been extended to model organisms, particularly the mouse. In the third phase of ENCODE, nearly a million and more than 300,000 cCRE annotations have been generated for human and mouse, respectively, and these have provided a valuable resource for the scientific community.
Published: 2020

35. Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.

Author: Cochran, J Nicholas, Cochran, J Nicholas, Geier, Ethan G, Bonham, Luke W, Newberry, J Scott, Amaral, Michelle D, Thompson, Michelle L, Lasseigne, Brittany N, Karydas, Anna M, Roberson, Erik D, Cooper, Gregory M, Rabinovici, Gil D, Miller, Bruce L, Myers, Richard M, Yokoyama, Jennifer S, Alzheimer’s Disease Neuroimaging Initiative, Cochran, J Nicholas, Cochran, J Nicholas, Geier, Ethan G, Bonham, Luke W, Newberry, J Scott, Amaral, Michelle D, Thompson, Michelle L, Lasseigne, Brittany N, Karydas, Anna M, Roberson, Erik D, Cooper, Gregory M, Rabinovici, Gil D, Miller, Bruce L, Myers, Richard M, Yokoyama, Jennifer S, and Alzheimer’s Disease Neuroimaging Initiative
Abstract: We conducted genome sequencing to search for rare variation contributing to early-onset Alzheimer's disease (EOAD) and frontotemporal dementia (FTD). Discovery analysis was conducted on 435 cases and 671 controls of European ancestry. Burden testing for rare variation associated with disease was conducted using filters based on variant rarity (less than one in 10,000 or private), computational prediction of deleteriousness (CADD) (10 or 15 thresholds), and molecular function (protein loss-of-function [LoF] only, coding alteration only, or coding plus non-coding variants in experimentally predicted regulatory regions). Replication analysis was conducted on 16,434 independent cases and 15,587 independent controls. Rare variants in TET2 were enriched in the discovery combined EOAD and FTD cohort (p = 4.6 × 10-8, genome-wide corrected p = 0.0026). Most of these variants were canonical LoF or non-coding in predicted regulatory regions. This enrichment replicated across several cohorts of Alzheimer's disease (AD) and FTD (replication only p = 0.0029). The combined analysis odds ratio was 2.3 (95% confidence interval [CI] 1.6-3.4) for AD and FTD. The odds ratio for qualifying non-coding variants considered independently from coding variants was 3.7 (95% CI 1.7-9.4). For LoF variants, the combined odds ratio (for AD, FTD, and amyotrophic lateral sclerosis, which shares clinicopathological overlap with FTD) was 3.1 (95% CI 1.9-5.2). TET2 catalyzes DNA demethylation. Given well-defined changes in DNA methylation that occur during aging, rare variation in TET2 may confer risk for neurodegeneration by altering the homeostasis of key aging-related processes. Additionally, our study emphasizes the relevance of non-coding variation in genetic studies of complex disease.
Published: 2020

36. Occupancy maps of 208 chromatin-associated proteins in one human cell type.

Author: Partridge, E, Partridge, E, Chhetri, Surya, Prokop, Jeremy, Ramaker, Ryne, Jansen, Camden, Goh, Say-Tar, Mackiewicz, Mark, Newberry, Kimberly, Brandsmeier, Laurel, Meadows, Sarah, Messer, C, Hardigan, Andrew, Coppola, Candice, Dean, Emma, Jiang, Shan, Savic, Daniel, Mortazavi, Ali, Wold, Barbara, Myers, Richard, Mendenhall, Eric, Partridge, E, Partridge, E, Chhetri, Surya, Prokop, Jeremy, Ramaker, Ryne, Jansen, Camden, Goh, Say-Tar, Mackiewicz, Mark, Newberry, Kimberly, Brandsmeier, Laurel, Meadows, Sarah, Messer, C, Hardigan, Andrew, Coppola, Candice, Dean, Emma, Jiang, Shan, Savic, Daniel, Mortazavi, Ali, Wold, Barbara, Myers, Richard, and Mendenhall, Eric
Abstract: Transcription factors are DNA-binding proteins that have key roles in gene regulation1,2. Genome-wide occupancy maps of transcriptional regulators are important for understanding gene regulation and its effects on diverse biological processes3-6. However, only a minority of the more than 1,600 transcription factors encoded in the human genome has been assayed. Here we present, as part of the ENCODE (Encyclopedia of DNA Elements) project, data and analyses from chromatin immunoprecipitation followed by high-throughput sequencing (ChIP-seq) experiments using the human HepG2 cell line for 208 chromatin-associated proteins (CAPs). These comprise 171 transcription factors and 37 transcriptional cofactors and chromatin regulator proteins, and represent nearly one-quarter of CAPs expressed in HepG2 cells. The binding profiles of these CAPs form major groups associated predominantly with promoters or enhancers, or with both. We confirm and expand the current catalogue of DNA sequence motifs for transcription factors, and describe motifs that correspond to other transcription factors that are co-enriched with the primary ChIP target. For example, FOX family motifs are enriched in ChIP-seq peaks of 37 other CAPs. We show that motif content and occupancy patterns can distinguish between promoters and enhancers. This catalogue reveals high-occupancy target regions at which many CAPs associate, although each contains motifs for only a minority of the numerous associated transcription factors. These analyses provide a more complete overview of the gene regulatory networks that define this cell type, and demonstrate the usefulness of the large-scale production efforts of the ENCODE Consortium.
Published: 2020

37. High spectral resolution gamma ray astronomy in the energy region 50keV to l0MeV

Author: Myers, Richard Michael
Subjects: 523.01, Galaxy activity observations
Abstract: Observations of the Crab nebula region and of the unusual active galaxy NGC1275 made during a balloon flight of the Durham high spectral resolution gamma ray telescope are described. From the Crab, spectral line fluxes were detected at 79 keV (transient), 405 keV, and at 1050 keV. The first two are possible confirmation of previous results. From NGC1275, evidence of two-photon electron-positron annihilation radiation with the expected redshifted energy of 502 keV was observed. Possible interpretations are suggested.
Published: 1988

38. Transmembrane Protein Aptamer Induces Cooperative Signaling by the EPO Receptor and the Cytokine Receptor β-Common Subunit

Author: He, Li, Cohen, Emily B., Edwards, Anne P. B., Xavier-Ferrucio, Juliana, Bugge, Katrine, Federman, Ross S., Absher, Devin, Myers, Richard M., Kragelund, Birthe B., Krause, Diane S., DiMaio, Daniel, He, Li, Cohen, Emily B., Edwards, Anne P. B., Xavier-Ferrucio, Juliana, Bugge, Katrine, Federman, Ross S., Absher, Devin, Myers, Richard M., Kragelund, Birthe B., Krause, Diane S., and DiMaio, Daniel
Abstract: The erythropoietin receptor (EPOR) plays an essential role in erythropoiesis and other cellular processes by forming distinct signaling complexes composed of EPOR homodimers or hetero-oligomers between the EPOR and another receptor, but the mechanism of heteroreceptor assembly and signaling is poorly understood. We report here a 46-residue, artificial transmembrane protein aptamer, designated ELI-3, that binds and activates the EPOR and induces growth factor independence in murine BaF3 cells expressing the EPOR. ELI-3 requires the transmembrane domain and JAK2-binding sites of the EPOR for activity, but not the cytoplasmic tyrosines that mediate canonical EPOR signaling. Instead, ELI-3-induced proliferation and activation of JAK/STAT signaling requires the transmembrane and cytoplasmic domains of the cytokine receptor β-common subunit (βcR) in addition to the EPOR. Moreover, ELI-3 fails to induce erythroid differentiation of primary human hematopoietic progenitor cells but inhibits nonhematopoietic cell death induced by serum withdrawal.
Published: 2019

39. Genome-wide association study identifies 30 loci associated with bipolar disorder

Author: Stahl, Eli A., Breen, Gerome, Forstner, Andreas J, McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan R I, Gaspar, Héléna A, de Leeuw, Christiaan A, Steinberg, Stacy, Pavlides, Jennifer M Whitehead, Trzaskowski, Maciej, Byrne, Enda M, Pers, Tune H, Holmans, Peter A, Richards, Alexander L, Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D, Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A, Bækvad-Hansen, Marie, Barchas, Jack D, Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E, Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco P, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W, Chen, Danfeng, Churchhouse, Claire, Clarke, Toni-Kim, Coryell, William, Craig, David W, Cruceanu, Cristiana, Curtis, David, Czerski, Piotr M, Dale, Anders M, de Jong, Simone, Degenhardt, Franziska, Del-Favero, Jurgen, DePaulo, J Raymond, Djurovic, Srdjan, Dobbyn, Amanda L, Dumont, Ashley, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B, Flickinger, Matthew, Foroud, Tatiana M, Forty, Liz, Frank, Josef, Fraser, Christine, Freimer, Nelson B, Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D, Gordon-Smith, Katherine, Green, Elaine K, Green, Melissa J, Greenwood, Tiffany A, Grove, Jakob, Guan, Weihua, Guzman-Parra, José, Hamshere, Marian L, Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Hipolito, Maria, Hoffmann, Per, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S, Juréus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L, Kittel-Schneider, Sarah, Knowles, James A, Kogevinas, Manolis, Koller, Anna C, Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B, Leber, Markus, Lee, Phil H, Levy, Shawn E, Li, Jun Z, Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J, Mahon, Pamela B, Maier, Wolfgang, Martinsson, Lina, McCarroll, Steve, McGuffin, Peter, McInnis, Melvin G, McKay, James D, Medeiros, Helena, Medland, Sarah E, Meng, Fan, Milani, Lili, Montgomery, Grant W, Morris, Derek W, Mühleisen, Thomas W, Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M, Nordin Adolfsson, Annelie, Nwulia, Evaristus A, O'Donovan, Claire, Loohuis, Loes M Olde, Ori, Anil P S, Oruc, Lilijana, Ösby, Urban, Perlis, Roy H, Perry, Amy, Pfennig, Andrea, Potash, James B, Purcell, Shaun M, Regeer, Eline J, Reif, Andreas, Reinbold, Céline S, Rice, John P, Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M, Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F, Scheftner, William A, Schork, Nicholas J, Shannon Weickert, Cynthia, Shehktman, Tatyana, Shilling, Paul D, Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B, Sobell, Janet L, Søholm Hansen, Christine, Spijker, Anne T, St Clair, David, Steffens, Michael, Strauss, John S, Streit, Fabian, Strohmaier, Jana, Szelinger, Szabolcs, Thompson, Robert C, Thorgeirsson, Thorgeir E, Treutlein, Jens, Vedder, Helmut, Wang, Weiqing, Watson, Stanley J, Weickert, Thomas W, Witt, Stephanie H, Xi, Simon, Xu, Wei, Young, Allan H, Zandi, Peter, Zhang, Peng, Zöllner, Sebastian, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Backlund, Lena, Baune, Bernhard T, Bellivier, Frank, Berrettini, Wade H, Biernacka, Joanna M, Blackwood, Douglas H R, Boehnke, Michael, Børglum, Anders D, Corvin, Aiden, Craddock, Nicholas, Daly, Mark J, Dannlowski, Udo, Esko, Tõnu, Etain, Bruno, Frye, Mark, Fullerton, Janice M, Gershon, Elliot S, Gill, Michael, Goes, Fernando, Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Hougaard, David M, Hultman, Christina M, Jones, Ian, Jones, Lisa A, Kahn, René S, Kirov, George, Landén, Mikael, Leboyer, Marion, Lewis, Cathryn M, Li, Qingqin S, Lissowska, Jolanta, Martin, Nicholas G, Mayoral, Fermin, McElroy, Susan L, McIntosh, Andrew M, McMahon, Francis J, Melle, Ingrid, Metspalu, Andres, Mitchell, Philip B, Morken, Gunnar, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Myers, Richard M, Neale, Benjamin M, Nimgaonkar, Vishwajit, Nordentoft, Merete, Nöthen, Markus M, O'Donovan, Michael C, Oedegaard, Ketil J, Owen, Michael J, Paciga, Sara A, Pato, Carlos, Pato, Michele T, Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Ribasés, Marta, Rietschel, Marcella, Rouleau, Guy A, Schalling, Martin, Schofield, Peter R, Schulze, Thomas G, Serretti, Alessandro, Smoller, Jordan W, Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Sullivan, Patrick F, Turecki, Gustavo, Vaaler, Arne E, Vieta, Eduard, Vincent, John B, Werge, Thomas, Nurnberger, John I, Wray, Naomi R, Di Florio, Arianna, Edenberg, Howard J, Cichon, Sven, Ophoff, Roel A, Scott, Laura J, Andreassen, Ole A, Kelsoe, John, Sklar, Pamela, Stahl, Eli A., Breen, Gerome, Forstner, Andreas J, McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan R I, Gaspar, Héléna A, de Leeuw, Christiaan A, Steinberg, Stacy, Pavlides, Jennifer M Whitehead, Trzaskowski, Maciej, Byrne, Enda M, Pers, Tune H, Holmans, Peter A, Richards, Alexander L, Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D, Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A, Bækvad-Hansen, Marie, Barchas, Jack D, Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E, Pedersen, Carsten Bøcker, Bøen, Erlend, Boks, Marco P, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Bybjerg-Grauholm, Jonas, Byerley, William, Casas, Miquel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Charney, Alexander W, Chen, Danfeng, Churchhouse, Claire, Clarke, Toni-Kim, Coryell, William, Craig, David W, Cruceanu, Cristiana, Curtis, David, Czerski, Piotr M, Dale, Anders M, de Jong, Simone, Degenhardt, Franziska, Del-Favero, Jurgen, DePaulo, J Raymond, Djurovic, Srdjan, Dobbyn, Amanda L, Dumont, Ashley, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B, Flickinger, Matthew, Foroud, Tatiana M, Forty, Liz, Frank, Josef, Fraser, Christine, Freimer, Nelson B, Frisén, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartolomei, Claudia, Pedersen, Marianne Giørtz, Goldstein, Jaqueline, Gordon, Scott D, Gordon-Smith, Katherine, Green, Elaine K, Green, Melissa J, Greenwood, Tiffany A, Grove, Jakob, Guan, Weihua, Guzman-Parra, José, Hamshere, Marian L, Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Hipolito, Maria, Hoffmann, Per, Holland, Dominic, Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S, Juréus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L, Kittel-Schneider, Sarah, Knowles, James A, Kogevinas, Manolis, Koller, Anna C, Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B, Leber, Markus, Lee, Phil H, Levy, Shawn E, Li, Jun Z, Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J, Mahon, Pamela B, Maier, Wolfgang, Martinsson, Lina, McCarroll, Steve, McGuffin, Peter, McInnis, Melvin G, McKay, James D, Medeiros, Helena, Medland, Sarah E, Meng, Fan, Milani, Lili, Montgomery, Grant W, Morris, Derek W, Mühleisen, Thomas W, Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M, Nordin Adolfsson, Annelie, Nwulia, Evaristus A, O'Donovan, Claire, Loohuis, Loes M Olde, Ori, Anil P S, Oruc, Lilijana, Ösby, Urban, Perlis, Roy H, Perry, Amy, Pfennig, Andrea, Potash, James B, Purcell, Shaun M, Regeer, Eline J, Reif, Andreas, Reinbold, Céline S, Rice, John P, Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M, Ryu, Euijung, Sánchez-Mora, Cristina, Schatzberg, Alan F, Scheftner, William A, Schork, Nicholas J, Shannon Weickert, Cynthia, Shehktman, Tatyana, Shilling, Paul D, Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B, Sobell, Janet L, Søholm Hansen, Christine, Spijker, Anne T, St Clair, David, Steffens, Michael, Strauss, John S, Streit, Fabian, Strohmaier, Jana, Szelinger, Szabolcs, Thompson, Robert C, Thorgeirsson, Thorgeir E, Treutlein, Jens, Vedder, Helmut, Wang, Weiqing, Watson, Stanley J, Weickert, Thomas W, Witt, Stephanie H, Xi, Simon, Xu, Wei, Young, Allan H, Zandi, Peter, Zhang, Peng, Zöllner, Sebastian, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Backlund, Lena, Baune, Bernhard T, Bellivier, Frank, Berrettini, Wade H, Biernacka, Joanna M, Blackwood, Douglas H R, Boehnke, Michael, Børglum, Anders D, Corvin, Aiden, Craddock, Nicholas, Daly, Mark J, Dannlowski, Udo, Esko, Tõnu, Etain, Bruno, Frye, Mark, Fullerton, Janice M, Gershon, Elliot S, Gill, Michael, Goes, Fernando, Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Hougaard, David M, Hultman, Christina M, Jones, Ian, Jones, Lisa A, Kahn, René S, Kirov, George, Landén, Mikael, Leboyer, Marion, Lewis, Cathryn M, Li, Qingqin S, Lissowska, Jolanta, Martin, Nicholas G, Mayoral, Fermin, McElroy, Susan L, McIntosh, Andrew M, McMahon, Francis J, Melle, Ingrid, Metspalu, Andres, Mitchell, Philip B, Morken, Gunnar, Mors, Ole, Mortensen, Preben Bo, Müller-Myhsok, Bertram, Myers, Richard M, Neale, Benjamin M, Nimgaonkar, Vishwajit, Nordentoft, Merete, Nöthen, Markus M, O'Donovan, Michael C, Oedegaard, Ketil J, Owen, Michael J, Paciga, Sara A, Pato, Carlos, Pato, Michele T, Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Ribasés, Marta, Rietschel, Marcella, Rouleau, Guy A, Schalling, Martin, Schofield, Peter R, Schulze, Thomas G, Serretti, Alessandro, Smoller, Jordan W, Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Sullivan, Patrick F, Turecki, Gustavo, Vaaler, Arne E, Vieta, Eduard, Vincent, John B, Werge, Thomas, Nurnberger, John I, Wray, Naomi R, Di Florio, Arianna, Edenberg, Howard J, Cichon, Sven, Ophoff, Roel A, Scott, Laura J, Andreassen, Ole A, Kelsoe, John, and Sklar, Pamela
Abstract: Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P < 1 × 10-4 in an additional 9,412 cases and 137,760 controls. Eight of the 19 variants that were genome-wide significant (P < 5 × 10-8) in the discovery GWAS were not genome-wide significant in the combined analysis, consistent with small effect sizes and limited power but also with genetic heterogeneity. In the combined analysis, 30 loci were genome-wide significant, including 20 newly identified loci. The significant loci contain genes encoding ion channels, neurotransmitter transporters and synaptic components. Pathway analysis revealed nine significantly enriched gene sets, including regulation of insulin secretion and endocannabinoid signaling. Bipolar I disorder is strongly genetically correlated with schizophrenia, driven by psychosis, whereas bipolar II disorder is more strongly correlated with major depressive disorder. These findings address key clinical questions and provide potential biological mechanisms for bipolar disorder.
Published: 2019
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40. Bi-Directional Learning: Identifying Contaminants on the Yurok Indian Reservation.

Author: Middleton, Beth Rose, Middleton, Beth Rose, Talaugon, Sabine, Young, Thomas M, Wong, Luann, Fluharty, Suzanne, Reed, Kaitlin, Cosby, Christine, Myers, Richard, Middleton, Beth Rose, Middleton, Beth Rose, Talaugon, Sabine, Young, Thomas M, Wong, Luann, Fluharty, Suzanne, Reed, Kaitlin, Cosby, Christine, and Myers, Richard
Abstract: The Yurok Tribe partnered with the University of California Davis (UC Davis) Superfund Research Program to identify and address contaminants in the Klamath watershed that may be impairing human and ecosystem health. We draw on a community-based participatory research approach that begins with community concerns, includes shared duties across the research process, and collaborative interpretation of results. A primary challenge facing University and Tribal researchers on this project is the complexity of the relationship(s) between the identity and concentrations of contaminants and the diversity of illnesses plaguing community members. The framework of bi-directional learning includes Yurok-led river sampling, Yurok traditional ecological knowledge, University lab analysis, and collaborative interpretation of results. Yurok staff and community members share their unique exposure pathways, their knowledge of the landscape, their past scientific studies, and the history of landscape management, and University researchers use both specific and broad scope chemical screening techniques to attempt to identify contaminants and their sources. Both university and tribal knowledge are crucial to understanding the relationship between human and environmental health. This paper examines University and Tribal researchers' shared learning, progress, and challenges at the end of the second year of a five-year Superfund Research Program (SRP) grant to identify and remediate toxins in the lower Klamath River watershed. Our water quality research is framed within a larger question of how to best build university-Tribal collaboration to address contamination and associated human health impacts.
Published: 2019

41. P2-126: LOSS-OF-FUNCTION CODING AND NON-CODING VARIANTS IN TET2 ARE ASSOCIATED WITH NEURODEGENERATIVE DISEASES

Author: Cochran, J Nicholas, Cochran, J Nicholas, Geier, Ethan G, Acosta-Uribe, Juliana, Thompson, Michelle L, Amaral, Michelle D, Newberry, J Scott, Lawlor, James MJ, Lasseigne, Brittany N, Cochran, Meagan E, Bonham, Luke W, Karydas, Anna M, Roberson, Erik D, Lopera, Francisco, Kosik, Kenneth S, Cooper, Gregory M, Rabinovici, Gil D, Miller, Bruce L, Myers, Richard M, Yokoyama, Jennifer S, Cochran, J Nicholas, Cochran, J Nicholas, Geier, Ethan G, Acosta-Uribe, Juliana, Thompson, Michelle L, Amaral, Michelle D, Newberry, J Scott, Lawlor, James MJ, Lasseigne, Brittany N, Cochran, Meagan E, Bonham, Luke W, Karydas, Anna M, Roberson, Erik D, Lopera, Francisco, Kosik, Kenneth S, Cooper, Gregory M, Rabinovici, Gil D, Miller, Bruce L, Myers, Richard M, and Yokoyama, Jennifer S
Published: 2019

42. Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.

Author: Hjelm, Brooke E, Hjelm, Brooke E, Rollins, Brandi, Morgan, Ling, Sequeira, Adolfo, Mamdani, Firoza, Pereira, Filipe, Damas, Joana, Webb, Michelle G, Weber, Matthieu D, Schatzberg, Alan F, Barchas, Jack D, Lee, Francis S, Akil, Huda, Watson, Stanley J, Myers, Richard M, Chao, Elizabeth C, Kimonis, Virginia, Thompson, Peter M, Bunney, William E, Vawter, Marquis P, Hjelm, Brooke E, Hjelm, Brooke E, Rollins, Brandi, Morgan, Ling, Sequeira, Adolfo, Mamdani, Firoza, Pereira, Filipe, Damas, Joana, Webb, Michelle G, Weber, Matthieu D, Schatzberg, Alan F, Barchas, Jack D, Lee, Francis S, Akil, Huda, Watson, Stanley J, Myers, Richard M, Chao, Elizabeth C, Kimonis, Virginia, Thompson, Peter M, Bunney, William E, and Vawter, Marquis P
Abstract: Deletions in the 16.6 kb mitochondrial genome have been implicated in numerous disorders that often display muscular and/or neurological symptoms due to the high-energy demands of these tissues. We describe a catalogue of 4489 putative mitochondrial DNA (mtDNA) deletions, including their frequency and relative read rate, using a combinatorial approach of mitochondria-targeted PCR, next-generation sequencing, bioinformatics, post-hoc filtering, annotation, and validation steps. Our bioinformatics pipeline uses MapSplice, an RNA-seq splice junction detection algorithm, to detect and quantify mtDNA deletion breakpoints rather than mRNA splices. Analyses of 93 samples from postmortem brain and blood found (i) the 4977 bp 'common deletion' was neither the most frequent deletion nor the most abundant; (ii) brain contained significantly more deletions than blood; (iii) many high frequency deletions were previously reported in MitoBreak, suggesting they are present at low levels in metabolically active tissues and are not exclusive to individuals with diagnosed mitochondrial pathologies; (iv) many individual deletions (and cumulative metrics) had significant and positive correlations with age and (v) the highest deletion burdens were observed in major depressive disorder brain, at levels greater than Kearns-Sayre Syndrome muscle. Collectively, these data suggest the Splice-Break pipeline can detect and quantify mtDNA deletions at a high level of resolution.
Published: 2019

43. A many-core CPU prototype of an MCAO and LTAO RTC for ELT-scale instruments

Author: Jenkins, David R., Basden, Alastair G., Myers, Richard M., Jenkins, David R., Basden, Alastair G., and Myers, Richard M.
Abstract: We propose a many-core CPU architecture for Extremely Large Telescope (ELT) scale adaptive optics (AO) real-time control (RTC) for the multi-conjugate AO (MCAO) and laser-tomographic AO (LTAO) modes. MCAO and LTAO differ from the more conventional single-conjugate (SCAO) mode by requiring more wavefront sensor (WFS) measurements and more deformable mirrors to achieve a wider field of correction, further increasing the computational requirements of ELT-scale AO. We demonstrate results of our CPU based AO RTC operating firstly in SCAO mode, using either Shack-Hartmann or Pyramid style WFS processing, and then in MCAO mode and in LTAO mode using the specifications of the proposed ELT instruments, MAORY and HARMONI. All results are gathered using a CPU based camera simulator utilising UDP packets to better demonstrate the pixel streaming and pipe-lining of the RTC software. We demonstrate the effects of switching parameters, streaming telemetry and implicit pseudo open-loop control (POLC) computation on the MCAO and LTAO modes. We achieve results of < 600$\mu$s latency with an ELT scale SCAO setup using Shack-Hartman processing and < 800$\mu$s latency with SCAO Pyramid WFS processing. We show that our MCAO and LTAO many core CPU architecture can achieve full system latencies of < 1000$\mu$s with jitters < 40$\mu$s RMS. We find that a CPU based AO RTC architecture has a good combination of performance, flexibility and maintainability for ELT-scale AO systems., Comment: Accepted 2019 March 01 MNRAS. Received 2019 February 28 ; in original form 2018 December 14. 12 pages, 17 figures, 2 tables
Published: 2019
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44. Association of Polygenic Liabilities for Major Depression, Bipolar Disorder, and Schizophrenia With Risk for Depression in the Danish Population

Author: Musliner, Katherine L., Mortensen, Preben B., McGrath, John J., Suppli, Nis P., Hougaard, David M., Bybjerg-Grauholm, Jonas, Baekvad-Hansen, Marie, Andreassen, Ole, Pedersen, Carsten B., Pedersen, Marianne G., Mors, Ole, Nordentoft, Merete, Borglum, Anders D., Werge, Thomas, Agerbo, Esben, Stahl, Eli A., Breen, Gerome, Forstner, Andreas J., McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan R., I, Gaspar, Helena A., de Leeuw, Christiaan A., Steinberg, Stacy, Pavlides, Jennifer M. Whitehead, Trzaskowski, Maciej, Pers, Tune H., Holmans, Peter A., Abbott, Liam, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A., Etzekvad-Hansen, Marie, Barchas, Jack D., Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E., Pedersen, Carsten Bocker, Boen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Byerley, William, Casas, Miguel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Chamey, Alexander W., Chen, Danfeng, Churchhouse, Claire, Clarke, Toni-Kim, Coryell, William, Craig, David W., Cruceanu, Cristiana, Curtis, David, Czerski, Piotr M., Dale, Anders M., de Jong, Simone, Degenhardt, Franziska, Del-Favero, Jurgen, DePaulo, J. Raymond, Djurovic, Srdjan, Dobbyn, Amanda L., Dumont, Ashley, Elvsashagen, Torbjorn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B., Flickinger, Matthew, Foroud, Tatiana M., Forty, Liz, Frank, Josef, Fraser, Christine, Freimer, Nelson B., Frisen, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartobmei, Claudia, Pedersen, Marianne Giortz, Goldstein, Jaqueline, Gordon, Scott D., Gordon-Smith, Katherine, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grove, Jakob, Guan, Weihua, Parra, Jose Guzman, Hamshere, Marian L., Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Hipolito, Maria, Hoffmann, Per, Holland, Dominic, Huckins, Laura, Jamain, Stephan, Johnson, Jessica S., Jureus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L., Kittel-Schneider, Sarah, Knott, Sarah, V, Knowles, James A., Kogevinas, Manolis, Koller, Anna C., Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B., Leber, Markus, Lee, Phil H., Levy, Shawn E., Li, Jun Z., Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J., Mahon, Pamela B., Maier, Wolfgang, Martinsson, Lina, McCarroll, Steve, McGuffin, Peter, McInnis, Melvin G., McKay, James D., Medeiros, Helena, Medland, Sarah E., Meng, Fan, Milani, Lili, Montgomery, Grant W., Morris, Derek W., Muehleisen, Thomas W., Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M., Adolfsson, Annelie Nordin, Nwulia, Evaristus A., O'Donovan, Claire, Loohuis, Loes M. Olde, Ori, Anil P. S., Oruc, Lilijana, Osby, Urban, Perlis, Roy H., Perry, Amy, Pfennig, Andrea, Potash, James B., Purcell, Shaun M., Regeer, Eline J., Reif, Andreas, Reinbold, Celine S., Rice, John P., Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M., Ryu, Euijung, Sanchez-Mora, Cristina, Schatzberg, Alan F., Scheftner, William A., Schork, Nicholas J., Weickert, Cynthia Shannon, Shehktman, Tatyana, Shilling, Paul D., Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Soholm, Spijker, Anne T., St Clair, David, Steffens, Michael, Strauss, John S., Streit, Fabian, Strohmaier, Jana, Szelinger, Szabolcs, Thompson, Robert C., Thorgeirsson, Thorgeir E., Treutlein, Jens, Vedder, Helmut, Wang, Weiqing, Watson, Stanley J., Weickert, Thomas W., Witt, Stephanie H., Xi, Simon, Xu, Wei, Young, Allan H., Zandi, Peter, Zhang, Peng, Zollner, Sebastian, Agartz, Ingrid, Aida, Martin, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Berrettini, Wade H., Biemacka, Joanna M., Blackwood, Douglas H. R., Boehnke, Michael, Berglum, Anders D., Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Dannlowski, Udo, Esko, Tonu, Etain, Bruno, Frye, Mark, Fullerton, Janice M., Gershon, Elliot S., Goes, Fernando, Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Hultman, Christina M., Jones, Ian, Jones, Lisa A., Kahn, Rene S., Kirov, George, Landen, Mikael, Leboyer, Marion, Lewis, Cathryn M., Li, Qingqin S., Lissowska, Jolanta, Martin, Nicholas G., Mayoral, Fermin, McElroy, Susan L., McIntosh, Andrew M., McMahon, Francis J., Melle, Ingrid, Metspalu, Andres, Mitchell, Philip B., Morken, Gunnar, Mortensen, Preben Bo, Mueller-Myhsok, Bertram, Myers, Richard M., Neale, Benjamin M., Nimgaonkar, Vishwajit, Noethen, Markus M., O'Donovan, Michael C., Oedegaard, Ketil J., Owen, Michael, Paciga, Sara A., Pato, Carlos, Pato, Michele T., Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Ribases, Marta, Rietschel, Marcella, Rouleau, Guy A., Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Serretti, Alessandro, Smoller, Jordan W., Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Sullivan, Patrick F., Turecki, Gustavo, Vaaler, Arne E., Ieta, Eduard, V, Vincent, John B., Nurnberger, John, I, Wray, Naomi R., Di Florio, Arianna, Edenberg, Howard J., Cichon, Sven, Ophoff, Roel A., Scott, Laura J., Andreassen, Ole A., Kelsoe, John, Sklar, Pamela, Musliner, Katherine L., Mortensen, Preben B., McGrath, John J., Suppli, Nis P., Hougaard, David M., Bybjerg-Grauholm, Jonas, Baekvad-Hansen, Marie, Andreassen, Ole, Pedersen, Carsten B., Pedersen, Marianne G., Mors, Ole, Nordentoft, Merete, Borglum, Anders D., Werge, Thomas, Agerbo, Esben, Stahl, Eli A., Breen, Gerome, Forstner, Andreas J., McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan R., I, Gaspar, Helena A., de Leeuw, Christiaan A., Steinberg, Stacy, Pavlides, Jennifer M. Whitehead, Trzaskowski, Maciej, Pers, Tune H., Holmans, Peter A., Abbott, Liam, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A., Etzekvad-Hansen, Marie, Barchas, Jack D., Bass, Nicholas, Bauer, Michael, Belliveau, Richard, Bergen, Sarah E., Pedersen, Carsten Bocker, Boen, Erlend, Boks, Marco, Boocock, James, Budde, Monika, Bunney, William, Burmeister, Margit, Byerley, William, Casas, Miguel, Cerrato, Felecia, Cervantes, Pablo, Chambert, Kimberly, Chamey, Alexander W., Chen, Danfeng, Churchhouse, Claire, Clarke, Toni-Kim, Coryell, William, Craig, David W., Cruceanu, Cristiana, Curtis, David, Czerski, Piotr M., Dale, Anders M., de Jong, Simone, Degenhardt, Franziska, Del-Favero, Jurgen, DePaulo, J. Raymond, Djurovic, Srdjan, Dobbyn, Amanda L., Dumont, Ashley, Elvsashagen, Torbjorn, Escott-Price, Valentina, Fan, Chun Chieh, Fischer, Sascha B., Flickinger, Matthew, Foroud, Tatiana M., Forty, Liz, Frank, Josef, Fraser, Christine, Freimer, Nelson B., Frisen, Louise, Gade, Katrin, Gage, Diane, Garnham, Julie, Giambartobmei, Claudia, Pedersen, Marianne Giortz, Goldstein, Jaqueline, Gordon, Scott D., Gordon-Smith, Katherine, Green, Elaine K., Green, Melissa J., Greenwood, Tiffany A., Grove, Jakob, Guan, Weihua, Parra, Jose Guzman, Hamshere, Marian L., Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Hipolito, Maria, Hoffmann, Per, Holland, Dominic, Huckins, Laura, Jamain, Stephan, Johnson, Jessica S., Jureus, Anders, Kandaswamy, Radhika, Karlsson, Robert, Kennedy, James L., Kittel-Schneider, Sarah, Knott, Sarah, V, Knowles, James A., Kogevinas, Manolis, Koller, Anna C., Kupka, Ralph, Lavebratt, Catharina, Lawrence, Jacob, Lawson, William B., Leber, Markus, Lee, Phil H., Levy, Shawn E., Li, Jun Z., Liu, Chunyu, Lucae, Susanne, Maaser, Anna, MacIntyre, Donald J., Mahon, Pamela B., Maier, Wolfgang, Martinsson, Lina, McCarroll, Steve, McGuffin, Peter, McInnis, Melvin G., McKay, James D., Medeiros, Helena, Medland, Sarah E., Meng, Fan, Milani, Lili, Montgomery, Grant W., Morris, Derek W., Muehleisen, Thomas W., Mullins, Niamh, Nguyen, Hoang, Nievergelt, Caroline M., Adolfsson, Annelie Nordin, Nwulia, Evaristus A., O'Donovan, Claire, Loohuis, Loes M. Olde, Ori, Anil P. S., Oruc, Lilijana, Osby, Urban, Perlis, Roy H., Perry, Amy, Pfennig, Andrea, Potash, James B., Purcell, Shaun M., Regeer, Eline J., Reif, Andreas, Reinbold, Celine S., Rice, John P., Rivas, Fabio, Rivera, Margarita, Roussos, Panos, Ruderfer, Douglas M., Ryu, Euijung, Sanchez-Mora, Cristina, Schatzberg, Alan F., Scheftner, William A., Schork, Nicholas J., Weickert, Cynthia Shannon, Shehktman, Tatyana, Shilling, Paul D., Sigurdsson, Engilbert, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Soholm, Spijker, Anne T., St Clair, David, Steffens, Michael, Strauss, John S., Streit, Fabian, Strohmaier, Jana, Szelinger, Szabolcs, Thompson, Robert C., Thorgeirsson, Thorgeir E., Treutlein, Jens, Vedder, Helmut, Wang, Weiqing, Watson, Stanley J., Weickert, Thomas W., Witt, Stephanie H., Xi, Simon, Xu, Wei, Young, Allan H., Zandi, Peter, Zhang, Peng, Zollner, Sebastian, Agartz, Ingrid, Aida, Martin, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Berrettini, Wade H., Biemacka, Joanna M., Blackwood, Douglas H. R., Boehnke, Michael, Berglum, Anders D., Corvin, Aiden, Craddock, Nicholas, Daly, Mark J., Dannlowski, Udo, Esko, Tonu, Etain, Bruno, Frye, Mark, Fullerton, Janice M., Gershon, Elliot S., Goes, Fernando, Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Hultman, Christina M., Jones, Ian, Jones, Lisa A., Kahn, Rene S., Kirov, George, Landen, Mikael, Leboyer, Marion, Lewis, Cathryn M., Li, Qingqin S., Lissowska, Jolanta, Martin, Nicholas G., Mayoral, Fermin, McElroy, Susan L., McIntosh, Andrew M., McMahon, Francis J., Melle, Ingrid, Metspalu, Andres, Mitchell, Philip B., Morken, Gunnar, Mortensen, Preben Bo, Mueller-Myhsok, Bertram, Myers, Richard M., Neale, Benjamin M., Nimgaonkar, Vishwajit, Noethen, Markus M., O'Donovan, Michael C., Oedegaard, Ketil J., Owen, Michael, Paciga, Sara A., Pato, Carlos, Pato, Michele T., Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Ribases, Marta, Rietschel, Marcella, Rouleau, Guy A., Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Serretti, Alessandro, Smoller, Jordan W., Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Sullivan, Patrick F., Turecki, Gustavo, Vaaler, Arne E., Ieta, Eduard, V, Vincent, John B., Nurnberger, John, I, Wray, Naomi R., Di Florio, Arianna, Edenberg, Howard J., Cichon, Sven, Ophoff, Roel A., Scott, Laura J., Andreassen, Ole A., Kelsoe, John, and Sklar, Pamela
Abstract: IMPORTANCE Although the usefulness of polygenic risk scores as a measure of genetic liability for major depression (MD) has been established, their association with depression in the general population remains relatively unexplored. OBJECTIVE To evaluate whether polygenic risk scores for MD, bipolar disorder (BD), and schizophrenia (SZ) are associated with depression in the general population and explore whether these polygenic liabilities are associated with heterogeneity in terms of age at onset and severity at the initial depression diagnosis. DESIGN SETTING AND PARTICIPANTS Participants were drawn from the Danish iPSYCH2012 case-cohort study, a representative sample drawn from the population of Denmark born between May 1, 1981, and December 31, 2005. The hazard of depression was estimated using Cox regressions modified to accommodate the case-cohort design. Case-only analyses were conducted using linear and multinomial regressions. The data analysis was conducted from February 2017 to June 2018. EXPOSURES Polygenic risk scores for MD, BD, and SZ trained using the most recent genome-wide association study results from the Psychiatric Genomics Consortium. MAIN OUTCOMES AND MEASURES The main outcome was first depressive episode (international Statistical Classification of Diseases and Related Health Problems, Tenth Revision [ICD-10] code F32) treated in hospital-based psychiatric care. Severity at the initial diagnosis was measured using the ICD-10 code severity specifications (mild, moderate, severe without psychosis, and severe with psychosis) and treatment setting (inpatient, outpatient, and emergency). RESULTS Of 34 573 participants aged 10 to 31 years at censoring, 68% of those with depression were female compared with 48.9% of participants without depression. Each SD increase in polygenic liability for MD, BD, and SZ was associated with 30% (hazard ratio [HR], 1.30; 95% CI, 1.27-1.33), 5% (HR, 1.05; 95% CI, 1.02-1.07), and 12% (HR, 1.12; 95% CI, 1.09-1.15) in
Published: 2019

45. Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.

Author: Geier, Ethan G, Geier, Ethan G, Bourdenx, Mathieu, Storm, Nadia J, Cochran, J Nicholas, Sirkis, Daniel W, Hwang, Ji-Hye, Bonham, Luke W, Ramos, Eliana Marisa, Diaz, Antonio, Van Berlo, Victoria, Dokuru, Deepika, Nana, Alissa L, Karydas, Anna, Balestra, Maureen E, Huang, Yadong, Russo, Silvia P, Spina, Salvatore, Grinberg, Lea T, Seeley, William W, Myers, Richard M, Miller, Bruce L, Coppola, Giovanni, Lee, Suzee E, Cuervo, Ana Maria, Yokoyama, Jennifer S, Geier, Ethan G, Geier, Ethan G, Bourdenx, Mathieu, Storm, Nadia J, Cochran, J Nicholas, Sirkis, Daniel W, Hwang, Ji-Hye, Bonham, Luke W, Ramos, Eliana Marisa, Diaz, Antonio, Van Berlo, Victoria, Dokuru, Deepika, Nana, Alissa L, Karydas, Anna, Balestra, Maureen E, Huang, Yadong, Russo, Silvia P, Spina, Salvatore, Grinberg, Lea T, Seeley, William W, Myers, Richard M, Miller, Bruce L, Coppola, Giovanni, Lee, Suzee E, Cuervo, Ana Maria, and Yokoyama, Jennifer S
Abstract: Pathogenic variation in MAPT, GRN, and C9ORF72 accounts for at most only half of frontotemporal lobar degeneration (FTLD) cases with a family history of neurological disease. This suggests additional variants and genes that remain to be identified as risk factors for FTLD. We conducted a case-control genetic association study comparing pathologically diagnosed FTLD patients (n = 94) to cognitively normal older adults (n = 3541), and found suggestive evidence that gene-wide aggregate rare variant burden in MFSD8 is associated with FTLD risk. Because homozygous mutations in MFSD8 cause neuronal ceroid lipofuscinosis (NCL), similar to homozygous mutations in GRN, we assessed rare variants in MFSD8 for relevance to FTLD through experimental follow-up studies. Using post-mortem tissue from middle frontal gyrus of patients with FTLD and controls, we identified increased MFSD8 protein levels in MFSD8 rare variant carriers relative to non-variant carrier patients with sporadic FTLD and healthy controls. We also observed an increase in lysosomal and autophagy-related proteins in MFSD8 rare variant carrier and sporadic FTLD patients relative to controls. Immunohistochemical analysis revealed that MFSD8 was expressed in neurons and astrocytes across subjects, without clear evidence of abnormal localization in patients. Finally, in vitro studies identified marked disruption of lysosomal function in cells from MFSD8 rare variant carriers, and identified one rare variant that significantly increased the cell surface levels of MFSD8. Considering the growing evidence for altered autophagy in the pathogenesis of neurodegenerative disorders, our findings support a role of NCL genes in FTLD risk and suggest that MFSD8-associated lysosomal dysfunction may contribute to FTLD pathology.
Published: 2019

46. Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr).

Author: Ramirez Aguilar, Laura, Ramirez Aguilar, Laura, Acosta-Uribe, Juliana, Giraldo, Margarita M, Moreno, Sonia, Baena, Ana, Alzate, Diana, Cuastumal, Rosario, Aguillón, David, Madrigal, Lucía, Saldarriaga, Amanda, Navarro, Alexander, Garcia, Gloria P, Aguirre-Acevedo, Daniel C, Geier, Ethan G, Cochran, J Nicholas, Quiroz, Yakeel T, Myers, Richard M, Yokoyama, Jennifer S, Kosik, Kenneth S, Lopera, Francisco, Ramirez Aguilar, Laura, Ramirez Aguilar, Laura, Acosta-Uribe, Juliana, Giraldo, Margarita M, Moreno, Sonia, Baena, Ana, Alzate, Diana, Cuastumal, Rosario, Aguillón, David, Madrigal, Lucía, Saldarriaga, Amanda, Navarro, Alexander, Garcia, Gloria P, Aguirre-Acevedo, Daniel C, Geier, Ethan G, Cochran, J Nicholas, Quiroz, Yakeel T, Myers, Richard M, Yokoyama, Jennifer S, Kosik, Kenneth S, and Lopera, Francisco
Abstract: IntroductionA small percentage of Alzheimer's disease (AD) cases are caused by genetic mutations with autosomal dominant inheritance. We report a family with a novel variant in PSEN1.MethodsWe performed clinical and genetic evaluation of 93 related individuals from a Colombian admixed population. 31 individuals had whole-genome sequencing.ResultsGenetic analysis revealed a missense variant in PSEN1 (NM_000021.3: c.1247T>C p.Ile416Thr), which originated on an African haplotype and segregated with AD logarithm of the odds score of 6. Their clinical phenotype is similar to sporadic AD except for earlier age at onset: the mean age at onset for mild cognitive impairment was 47.6 years (standard deviation 5.83) and for dementia 51.6 years (standard deviation 5.03).DiscussionIle416Thr is a novel pathogenic variant that causes AD in the sixth decade of life. The history of the region that included slave importation and admixtures within a confined geographic locale represents a "mini-population bottleneck" and subsequent emergence of a rare dominant mutation.
Published: 2019

47. Dynamics of microRNA expression during mouse prenatal development.

Author: Rahmanian, Sorena, Rahmanian, Sorena, Murad, Rabi, Breschi, Alessandra, Zeng, Weihua, Mackiewicz, Mark, Williams, Brian, Davis, Carrie, Roberts, Brian, Meadows, Sarah, Moore, Dianna, Trout, Diane, Zaleski, Chris, Dobin, Alex, Sei, Lei-Hoon, Drenkow, Jorg, Scavelli, Alex, Gingeras, Thomas, Wold, Barbara, Myers, Richard, Guigó, Roderic, Mortazavi, Ali, Rahmanian, Sorena, Rahmanian, Sorena, Murad, Rabi, Breschi, Alessandra, Zeng, Weihua, Mackiewicz, Mark, Williams, Brian, Davis, Carrie, Roberts, Brian, Meadows, Sarah, Moore, Dianna, Trout, Diane, Zaleski, Chris, Dobin, Alex, Sei, Lei-Hoon, Drenkow, Jorg, Scavelli, Alex, Gingeras, Thomas, Wold, Barbara, Myers, Richard, Guigó, Roderic, and Mortazavi, Ali
Abstract: MicroRNAs (miRNAs) play a critical role as posttranscriptional regulators of gene expression. The ENCODE Project profiled the expression of miRNAs in an extensive set of organs during a time-course of mouse embryonic development and captured the expression dynamics of 785 miRNAs. We found distinct organ-specific and developmental stage-specific miRNA expression clusters, with an overall pattern of increasing organ-specific expression as embryonic development proceeds. Comparative analysis of conserved miRNAs in mouse and human revealed stronger clustering of expression patterns by organ type rather than by species. An analysis of messenger RNA expression clusters compared with miRNA expression clusters identifies the potential role of specific miRNA expression clusters in suppressing the expression of mRNAs specific to other developmental programs in the organ in which these miRNAs are expressed during embryonic development. Our results provide the most comprehensive time-course of miRNA expression as part of an integrated ENCODE reference data set for mouse embryonic development.
Published: 2019

48. The ELT-MOS (MOSAIC) : towards the construction phase

Author: Morris, Simon, Hammer, Francois, Jagourel, Pascal, Evans, Christopher J., Puech, Mathieu, Dalton, Gavin B., Rodrigues, Myriam, Sanchez-Janssen, Ruben, Fitzsimons, Ewan, Barbuy, Beatriz, Cuby, Jean-Gabriel, Kaper, Lex, Roth, Martin, Rousset, Gerard, Myers, Richard, Le Fevre, Olivier, Finogenov, Alexis, Kotilainen, Jari, Castilho, Bruno, Ostlin, Goran, Feltzing, Sofia, Korn, Andreas, Gallego, Jesus, Castillo Morales, Africa, Iglesias-Paramo, Jorge, Pentericci, Laura, Ziegler, Bodo, Afonso, Jose, Dubbledam, Marc, Close, Madeline, Parr-Burman, Phil, Morris, Timothy J., Chemla, Fanny, De Frondat, Fatima, Kelz, Andreas, Guinouard, Isabelle, Lewis, Ian J., Middleton, Kevin, Navarro, Ramon, Pragt, Marie LarrieuJohan, Janssen, Annemieke, Dohlen, Kjetil, El Hadi, Kacem, Gendron, Eric, Yang, Yanbin, Wells, Martyn, Conan, Jean-Marc, Fusco, Thierry, Schaerer, Daniel, Bergin, Edwin, Taburet, Sylvestre, Frotin, Mickael, Berkourn, Nadia, Morris, Simon, Hammer, Francois, Jagourel, Pascal, Evans, Christopher J., Puech, Mathieu, Dalton, Gavin B., Rodrigues, Myriam, Sanchez-Janssen, Ruben, Fitzsimons, Ewan, Barbuy, Beatriz, Cuby, Jean-Gabriel, Kaper, Lex, Roth, Martin, Rousset, Gerard, Myers, Richard, Le Fevre, Olivier, Finogenov, Alexis, Kotilainen, Jari, Castilho, Bruno, Ostlin, Goran, Feltzing, Sofia, Korn, Andreas, Gallego, Jesus, Castillo Morales, Africa, Iglesias-Paramo, Jorge, Pentericci, Laura, Ziegler, Bodo, Afonso, Jose, Dubbledam, Marc, Close, Madeline, Parr-Burman, Phil, Morris, Timothy J., Chemla, Fanny, De Frondat, Fatima, Kelz, Andreas, Guinouard, Isabelle, Lewis, Ian J., Middleton, Kevin, Navarro, Ramon, Pragt, Marie LarrieuJohan, Janssen, Annemieke, Dohlen, Kjetil, El Hadi, Kacem, Gendron, Eric, Yang, Yanbin, Wells, Martyn, Conan, Jean-Marc, Fusco, Thierry, Schaerer, Daniel, Bergin, Edwin, Taburet, Sylvestre, Frotin, Mickael, and Berkourn, Nadia
Abstract: When combined with the huge collecting area of the ELT, MOSAIC will be the most effective and flexible Multi-Object Spectrograph (MOS) facility in the world, having both a high multiplex and a multi-Integral Field Unit (Multi-IFU) capability. It will be the fastest way to spectroscopically follow-up the faintest sources, probing the reionisation epoch, as well as evaluating the evolution of the dwarf mass function over most of the age of the Universe. MOSAIC will be world-leading in generating an inventory of both the dark matter (from realistic rotation curves with MOAO fed NIR IFUs) and the cool to warm-hot gas phases in z=3.5 galactic haloes (with visible wavelenth IFUs). Galactic archaeology and the first massive black holes are additional targets for which MOSAIC will also be revolutionary. MOAO and accurate sky subtraction with fibres have now been demonstrated on sky, removing all low Technical Readiness Level (TRL) items from the instrument. A prompt implementation of MOSAIC is feasible, and indeed could increase the robustness and reduce risk on the ELT, since it does not require diffraction limited adaptive optics performance. Science programmes and survey strategies are currently being investigated by the Consortium, which is also hoping to welcome a few new partners in the next two years.
Published: 2018
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49. Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

Author: de Jong, Simone, Abdalla Diniz, Mateus Jose, Saloma, Andiara, Gadelha, Ary, Santoro, Marcos L., Ota, Vanessa K., Noto, Cristiano, Curtis, Charlesg, Newhouse, Stephen J., Patel, Hamel, Hall, Lynsey S., O'Reilly, Paul F., Belangero, Sintia, I, Bressan, Rodrigo A., Breen, Gerome, Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H. R., Bryois, Julien, Buttenschon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan R., I, Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor, V, Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Helena A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hansen, Christine Soholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltan, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, Mcgrath, Patrick, Mcguffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shyn, Stanley, I, Sigurdsson, Engilbert, Sinnamon, Grant C. B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andre G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Juergen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret, I, Cichon, Sven, Dannlowski, Udo, de Geus, E. J. C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tonu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A. F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Mueller-Myhsok, Bertram, Nordentoft, Merete, Noethen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W. J. H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Voelzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Borglum, Anders D., Sullivan, Patrick F., Meier, Sandra, Strauss, John, Xu, Wei, Vincent, John B., Matthews, Keith, Ferreira, Manuel, O'Dushlaine, Colm, Purcell, Shaun, Raychaudhuri, Soumya, Ruderfer, Douglas M., Sklar, Pamela, Scott, Laura J., Flickinger, Matthew, Burmeister, Margit, Li, Jun, Guan, Weihua, Absher, Devin, Thompson, Robert C., Meng, Fan Guo, Schatzberg, Alan F., Bunney, William E., Barchas, Jack D., Watson, Stanley J., Myers, Richard M., Akil, Huda, Boehnke, Michael, Chambert, Kimberly, Moran, Jennifer, Scolnick, Edward, Djurovic, Srdjan, Melle, Ingrid, Morken, Gunnar, Corvin, Aiden, Anjorin, Adebayo, Kandaswamy, Radhika, Lawrence, Jacob, McLean, Alan W., Pickard, Benjamin S., Bergen, Sarah E., Nimgaonkar, Vishwajit, Landen, Mikael, Schalling, Martin, Osby, Urban, Backlund, Lena, Frisen, Louise, Langstrom, Niklas, Stahl, Eli, Dobbyn, Amanda, Jamain, Stephane, Etain, Bruno, Bellivier, Frank, Leber, Markus, Maaser, Anna, Fischer, Sascha B., Reinbold, Celine S., Kittel-Schneider, Sarah, Fullerton, Janice M., Oruc, Lilijana, Para, Jose G., Mayoral, Fermin, Rivas, Fabio, Czerski, Piotr M., Kammerer-Ciernioch, Jutta, Vedder, Helmut, Borrmann-Hassenbach, Margitta, Pfennig, Andrea, Brennan, Paul, McKay, James D., Kogevinas, Manolis, Schwarz, Markus, Schofield, Peter R., Muehleisen, Thomas W., Schumacher, Johannes, Bauer, Michael, Wright, Adam, Mitchell, Philip B., Hautzinger, Martin, Kelsoe, John R., Greenwood, Tiffany A., Nievergelt, Caroline M., Shilling, Paul D., Smith, Erin N., Bloss, Cinnamon S., Edenberg, Howard J., Koller, Daniel L., Gershon, Elliot S., Liu, Chunyu, Badner, Judith A., Scheftner, William A., Lawson, William B., Nwulia, Evaristus A., Hipolito, Maria, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J., Lohoff, Falk W., Zandi, Peter P., Mahon, Pamela B., McInnis, Melvin G., Zollner, Sebastian, Zhang, Peng, Szelinger, Szabolcs, St Clair, David, Caesar, Sian, Gordon-Smith, Katherine, Fraser, Christine, Green, Elaine K., Grozeva, Detelina, Hamshere, Marian L., Kirov, George, Nikolov, Ivan, Collier, David A., Elkin, Amanda, Williamson, Richard, Young, Allan H., Ferrier, I. Nicol, Milanova, Vihra, Alda, Martin, Cervantes, Pablo, Cruceanu, Cristiana, Rouleau, Guy A., Turecki, Gustavo, Paciga, Sara, Winslow, Ashley R., Grigoroiu-Serbanescu, Maria, Ophoff, Roel, Adolfsson, Rolf, Nordin Adolfsson, Annelie, Del-Favero, Jurgen, Pato, Carlos, Biernacka, Joanna M., Frye, Mark A., Morris, Derek, Schork, Nicholas J., Reif, Andreas, Lissowska, Jolanta, Hauser, Joanna, Szeszenia-Dabrowska, Neonila, McGhee, Kevin, Quinn, Emma, Moskvina, Valentina, Holmans, Peter A., Farmer, Anne, Kennedy, James L., Andreassen, Ole A., Mattingsdal, Morten, Bass, Nicholas J., Gurling, Hugh, McQuillin, Andrew, Breuer, Rene, Hultman, Christina, Lichtenstein, Paul, Huckins, Laura M., Leboyer, Marion, Lathrop, Mark, Nurnberger, John, Steffens, Michael, Foroud, Tatiana M., Berrettini, Wade H., Craig, David W., Shi, Jianxin, de Jong, Simone, Abdalla Diniz, Mateus Jose, Saloma, Andiara, Gadelha, Ary, Santoro, Marcos L., Ota, Vanessa K., Noto, Cristiano, Curtis, Charlesg, Newhouse, Stephen J., Patel, Hamel, Hall, Lynsey S., O'Reilly, Paul F., Belangero, Sintia, I, Bressan, Rodrigo A., Breen, Gerome, Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H. R., Bryois, Julien, Buttenschon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan R., I, Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Davies, Gail, Deary, Ian J., Degenhardt, Franziska, Derks, Eske M., Direk, Nese, Dolan, Conor, V, Dunn, Erin C., Eley, Thalia C., Escott-Price, Valentina, Kiadeh, Farnush Farhadi Hassan, Finucane, Hilary K., Forstner, Andreas J., Frank, Josef, Gaspar, Helena A., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Grove, Jakob, Hansen, Christine Soholm, Hansen, Thomas F., Herms, Stefan, Hickie, Ian B., Hoffmann, Per, Homuth, Georg, Horn, Carsten, Hottenga, Jouke-Jan, Hougaard, David M., Ising, Marcus, Jansen, Rick, Jones, Ian, Jones, Lisa A., Jorgenson, Eric, Knowles, James A., Kohane, Isaac S., Kraft, Julia, Kretzschmar, Warren W., Krogh, Jesper, Kutalik, Zoltan, Li, Yihan, Lind, Penelope A., MacIntyre, Donald J., MacKinnon, Dean F., Maier, Robert M., Maier, Wolfgang, Marchini, Jonathan, Mbarek, Hamdi, Mcgrath, Patrick, Mcguffin, Peter, Medland, Sarah E., Mehta, Divya, Middeldorp, Christel M., Mihailov, Evelin, Milaneschi, Yuri, Milani, Lili, Mondimore, Francis M., Montgomery, Grant W., Mostafavi, Sara, Mullins, Niamh, Nauck, Matthias, Ng, Bernard, Nivard, Michel G., Nyholt, Dale R., Oskarsson, Hogni, Owen, Michael J., Painter, Jodie N., Pedersen, Carsten Bocker, Pedersen, Marianne Giortz, Peterson, Roseann E., Pettersson, Erik, Peyrot, Wouter J., Pistis, Giorgio, Posthuma, Danielle, Quiroz, Jorge A., Qvist, Per, Rice, John P., Riley, Brien P., Rivera, Margarita, Mirza, Saira Saeed, Schoevers, Robert, Schulte, Eva C., Shen, Ling, Shyn, Stanley, I, Sigurdsson, Engilbert, Sinnamon, Grant C. B., Smit, Johannes H., Smith, Daniel J., Stefansson, Hreinn, Steinberg, Stacy, Streit, Fabian, Strohmaier, Jana, Tansey, Katherine E., Teismann, Henning, Teumer, Alexander, Thompson, Wesley, Thomson, Pippa A., Thorgeirsson, Thorgeir E., Traylor, Matthew, Treutlein, Jens, Trubetskoy, Vassily, Uitterlinden, Andre G., Umbricht, Daniel, Van der Auwera, Sandra, van Hemert, Albert M., Viktorin, Alexander, Visscher, Peter M., Wang, Yunpeng, Webb, Bradley T., Weinsheimer, Shantel Marie, Wellmann, Juergen, Willemsen, Gonneke, Witt, Stephanie H., Wu, Yang, Xi, Hualin S., Yang, Jian, Zhang, Futao, Arolt, Volker, Baune, Bernhard T., Berger, Klaus, Boomsma, Dorret, I, Cichon, Sven, Dannlowski, Udo, de Geus, E. J. C., DePaulo, J. Raymond, Domenici, Enrico, Domschke, Katharina, Esko, Tonu, Grabe, Hans J., Hamilton, Steven P., Hayward, Caroline, Heath, Andrew C., Kendler, Kenneth S., Kloiber, Stefan, Lewis, Glyn, Li, Qingqin S., Lucae, Susanne, Madden, Pamela A. F., Magnusson, Patrik K., Martin, Nicholas G., McIntosh, Andrew M., Metspalu, Andres, Mors, Ole, Mortensen, Preben Bo, Mueller-Myhsok, Bertram, Nordentoft, Merete, Noethen, Markus M., O'Donovan, Michael C., Paciga, Sara A., Pedersen, Nancy L., Penninx, Brenda W. J. H., Perlis, Roy H., Porteous, David J., Potash, James B., Preisig, Martin, Rietschel, Marcella, Schaefer, Catherine, Schulze, Thomas G., Smoller, Jordan W., Stefansson, Kari, Tiemeier, Henning, Uher, Rudolf, Voelzke, Henry, Weissman, Myrna M., Werge, Thomas, Lewis, Cathryn M., Levinson, Douglas F., Borglum, Anders D., Sullivan, Patrick F., Meier, Sandra, Strauss, John, Xu, Wei, Vincent, John B., Matthews, Keith, Ferreira, Manuel, O'Dushlaine, Colm, Purcell, Shaun, Raychaudhuri, Soumya, Ruderfer, Douglas M., Sklar, Pamela, Scott, Laura J., Flickinger, Matthew, Burmeister, Margit, Li, Jun, Guan, Weihua, Absher, Devin, Thompson, Robert C., Meng, Fan Guo, Schatzberg, Alan F., Bunney, William E., Barchas, Jack D., Watson, Stanley J., Myers, Richard M., Akil, Huda, Boehnke, Michael, Chambert, Kimberly, Moran, Jennifer, Scolnick, Edward, Djurovic, Srdjan, Melle, Ingrid, Morken, Gunnar, Corvin, Aiden, Anjorin, Adebayo, Kandaswamy, Radhika, Lawrence, Jacob, McLean, Alan W., Pickard, Benjamin S., Bergen, Sarah E., Nimgaonkar, Vishwajit, Landen, Mikael, Schalling, Martin, Osby, Urban, Backlund, Lena, Frisen, Louise, Langstrom, Niklas, Stahl, Eli, Dobbyn, Amanda, Jamain, Stephane, Etain, Bruno, Bellivier, Frank, Leber, Markus, Maaser, Anna, Fischer, Sascha B., Reinbold, Celine S., Kittel-Schneider, Sarah, Fullerton, Janice M., Oruc, Lilijana, Para, Jose G., Mayoral, Fermin, Rivas, Fabio, Czerski, Piotr M., Kammerer-Ciernioch, Jutta, Vedder, Helmut, Borrmann-Hassenbach, Margitta, Pfennig, Andrea, Brennan, Paul, McKay, James D., Kogevinas, Manolis, Schwarz, Markus, Schofield, Peter R., Muehleisen, Thomas W., Schumacher, Johannes, Bauer, Michael, Wright, Adam, Mitchell, Philip B., Hautzinger, Martin, Kelsoe, John R., Greenwood, Tiffany A., Nievergelt, Caroline M., Shilling, Paul D., Smith, Erin N., Bloss, Cinnamon S., Edenberg, Howard J., Koller, Daniel L., Gershon, Elliot S., Liu, Chunyu, Badner, Judith A., Scheftner, William A., Lawson, William B., Nwulia, Evaristus A., Hipolito, Maria, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J., Lohoff, Falk W., Zandi, Peter P., Mahon, Pamela B., McInnis, Melvin G., Zollner, Sebastian, Zhang, Peng, Szelinger, Szabolcs, St Clair, David, Caesar, Sian, Gordon-Smith, Katherine, Fraser, Christine, Green, Elaine K., Grozeva, Detelina, Hamshere, Marian L., Kirov, George, Nikolov, Ivan, Collier, David A., Elkin, Amanda, Williamson, Richard, Young, Allan H., Ferrier, I. Nicol, Milanova, Vihra, Alda, Martin, Cervantes, Pablo, Cruceanu, Cristiana, Rouleau, Guy A., Turecki, Gustavo, Paciga, Sara, Winslow, Ashley R., Grigoroiu-Serbanescu, Maria, Ophoff, Roel, Adolfsson, Rolf, Nordin Adolfsson, Annelie, Del-Favero, Jurgen, Pato, Carlos, Biernacka, Joanna M., Frye, Mark A., Morris, Derek, Schork, Nicholas J., Reif, Andreas, Lissowska, Jolanta, Hauser, Joanna, Szeszenia-Dabrowska, Neonila, McGhee, Kevin, Quinn, Emma, Moskvina, Valentina, Holmans, Peter A., Farmer, Anne, Kennedy, James L., Andreassen, Ole A., Mattingsdal, Morten, Bass, Nicholas J., Gurling, Hugh, McQuillin, Andrew, Breuer, Rene, Hultman, Christina, Lichtenstein, Paul, Huckins, Laura M., Leboyer, Marion, Lathrop, Mark, Nurnberger, John, Steffens, Michael, Foroud, Tatiana M., Berrettini, Wade H., Craig, David W., and Shi, Jianxin
Abstract: Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
Published: 2018
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50. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author: Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L., Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L., Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O., D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Goldstein, David B., Gitler, Aaron D., Harris, Tim, Myers, Richard M., Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K., LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N., Thompson, Leslie M., Van Eyk, Jennifer E., Berry, James D., Miller, Timothy M., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Soraru, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Malaspina, Andrea, Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Sapp, Peter C., McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor L. M. A., Luis Munoz-Blanco, Jose, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, Pulst, Stefan M., Ravits, John M., MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H., Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E., Basak, A. Nazli, Mora, Jesus S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Rouleau, Guy A., Esteban-Perez, Jesus, Garcia-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W., Maragakis, Nicholas J., Rothstein, Jeffrey D., Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Camu, William, Trojanowski, John Q., Van Deerlin, Vivianna M., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Harms, Matthew B., Glass, Jonathan D., Stone, David J., Tienari, Pentti, Silani, Vincenzo, Chio, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E., Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L., Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L., Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O., D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Goldstein, David B., Gitler, Aaron D., Harris, Tim, Myers, Richard M., Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K., LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N., Thompson, Leslie M., Van Eyk, Jennifer E., Berry, James D., Miller, Timothy M., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Soraru, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Malaspina, Andrea, Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Sapp, Peter C., McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor L. M. A., Luis Munoz-Blanco, Jose, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, Pulst, Stefan M., Ravits, John M., MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H., Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E., Basak, A. Nazli, Mora, Jesus S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Rouleau, Guy A., Esteban-Perez, Jesus, Garcia-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W., Maragakis, Nicholas J., Rothstein, Jeffrey D., Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Camu, William, Trojanowski, John Q., Van Deerlin, Vivianna M., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Harms, Matthew B., Glass, Jonathan D., Stone, David J., Tienari, Pentti, Silani, Vincenzo, Chio, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
Abstract: To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
Published: 2018
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