728 results on '"Baker, Carl"'
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2. A draft human pangenome reference
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Liao, Wen-Wei, Asri, Mobin, Ebler, Jana, Doerr, Daniel, Haukness, Marina, Hickey, Glenn, Lu, Shuangjia, Lucas, Julian K, Monlong, Jean, Abel, Haley J, Buonaiuto, Silvia, Chang, Xian H, Cheng, Haoyu, Chu, Justin, Colonna, Vincenza, Eizenga, Jordan M, Feng, Xiaowen, Fischer, Christian, Fulton, Robert S, Garg, Shilpa, Groza, Cristian, Guarracino, Andrea, Harvey, William T, Heumos, Simon, Howe, Kerstin, Jain, Miten, Lu, Tsung-Yu, Markello, Charles, Martin, Fergal J, Mitchell, Matthew W, Munson, Katherine M, Mwaniki, Moses Njagi, Novak, Adam M, Olsen, Hugh E, Pesout, Trevor, Porubsky, David, Prins, Pjotr, Sibbesen, Jonas A, Sirén, Jouni, Tomlinson, Chad, Villani, Flavia, Vollger, Mitchell R, Antonacci-Fulton, Lucinda L, Baid, Gunjan, Baker, Carl A, Belyaeva, Anastasiya, Billis, Konstantinos, Carroll, Andrew, Chang, Pi-Chuan, Cody, Sarah, Cook, Daniel E, Cook-Deegan, Robert M, Cornejo, Omar E, Diekhans, Mark, Ebert, Peter, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L, Formenti, Giulio, Frankish, Adam, Gao, Yan, Garrison, Nanibaa’ A, Giron, Carlos Garcia, Green, Richard E, Haggerty, Leanne, Hoekzema, Kendra, Hourlier, Thibaut, Ji, Hanlee P, Kenny, Eimear E, Koenig, Barbara A, Kolesnikov, Alexey, Korbel, Jan O, Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Lewis, Alexandra P, Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, McCartney, Ann, McDaniel, Jennifer, Mountcastle, Jacquelyn, Nattestad, Maria, Nurk, Sergey, Olson, Nathan D, Popejoy, Alice B, Puiu, Daniela, Rautiainen, Mikko, Regier, Allison A, Rhie, Arang, Sacco, Samuel, Sanders, Ashley D, Schneider, Valerie A, Schultz, Baergen I, Shafin, Kishwar, Smith, Michael W, Sofia, Heidi J, Abou Tayoun, Ahmad N, Thibaud-Nissen, Françoise, and Tricomi, Francesca Floriana
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Biological Sciences ,Genetics ,2.1 Biological and endogenous factors ,1.5 Resources and infrastructure (underpinning) ,Generic health relevance ,Humans ,Diploidy ,Genome ,Human ,Haplotypes ,Sequence Analysis ,DNA ,Genomics ,Reference Standards ,Cohort Studies ,Alleles ,Genetic Variation ,General Science & Technology - Abstract
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample.
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- 2023
3. Gaps and complex structurally variant loci in phased genome assemblies
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Porubsky, David, Vollger, Mitchell R, Harvey, William T, Rozanski, Allison N, Ebert, Peter, Hickey, Glenn, Hasenfeld, Patrick, Sanders, Ashley D, Stober, Catherine, Consortium, Human Pangenome Reference, Korbel, Jan O, Paten, Benedict, Marschall, Tobias, Eichler, Evan E, Abel, Haley J, Antonacci-Fulton, Lucinda L, Asri, Mobin, Baid, Gunjan, Baker, Carl A, Belyaeva, Anastasiya, Billis, Konstantinos, Bourque, Guillaume, Buonaiuto, Silvia, Carroll, Andrew, Chaisson, Mark JP, Chang, Pi-Chuan, Chang, Xian H, Cheng, Haoyu, Chu, Justin, Cody, Sarah, Colonna, Vincenza, Cook, Daniel E, Cook-Deegan, Robert M, Cornejo, Omar E, Diekhans, Mark, Doerr, Daniel, Ebler, Jana, Eizenga, Jordan M, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L, Feng, Xiaowen, Fischer, Christian, Flicek, Paul, Formenti, Giulio, Frankish, Adam, Fulton, Robert S, Gao, Yan, Garg, Shilpa, Garrison, Erik, Garrison, Nanibaa’ A, Giron, Carlos Garcia, Green, Richard E, Groza, Cristian, Guarracino, Andrea, Haggerty, Leanne, Hall, Ira M, Haukness, Marina, Haussler, David, Heumos, Simon, Hoekzema, Kendra, Hourlier, Thibaut, Howe, Kerstin, Jain, Miten, Jarvis, Erich D, Ji, Hanlee P, Kenny, Eimear E, Koenig, Barbara A, Kolesnikov, Alexey, Kordosky, Jennifer, Koren, Sergey, Lee, HoJoon, Lewis, Alexandra P, Li, Heng, Liao, Wen-Wei, Lu, Shuangjia, Lu, Tsung-Yu, Lucas, Julian K, Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, Markello, Charles, Martin, Fergal J, McCartney, Ann, McDaniel, Jennifer, Miga, Karen H, Mitchell, Matthew W, Monlong, Jean, Mountcastle, Jacquelyn, Munson, Katherine M, Mwaniki, Moses Njagi, Nattestad, Maria, Novak, Adam M, and Nurk, Sergey
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Human Genome ,Humans ,DNA ,Satellite ,Polymorphism ,Genetic ,Haplotypes ,Segmental Duplications ,Genomic ,Sequence Analysis ,DNA ,Human Pangenome Reference Consortium ,Medical and Health Sciences ,Bioinformatics - Abstract
There has been tremendous progress in phased genome assembly production by combining long-read data with parental information or linked-read data. Nevertheless, a typical phased genome assembly generated by trio-hifiasm still generates more than 140 gaps. We perform a detailed analysis of gaps, assembly breaks, and misorientations from 182 haploid assemblies obtained from a diversity panel of 77 unique human samples. Although trio-based approaches using HiFi are the current gold standard, chromosome-wide phasing accuracy is comparable when using Strand-seq instead of parental data. Importantly, the majority of assembly gaps cluster near the largest and most identical repeats (including segmental duplications [35.4%], satellite DNA [22.3%], or regions enriched in GA/AT-rich DNA [27.4%]). Consequently, 1513 protein-coding genes overlap assembly gaps in at least one haplotype, and 231 are recurrently disrupted or missing from five or more haplotypes. Furthermore, we estimate that 6-7 Mbp of DNA are misorientated per haplotype irrespective of whether trio-free or trio-based approaches are used. Of these misorientations, 81% correspond to bona fide large inversion polymorphisms in the human species, most of which are flanked by large segmental duplications. We also identify large-scale alignment discontinuities consistent with 11.9 Mbp of deletions and 161.4 Mbp of insertions per haploid genome. Although 99% of this variation corresponds to satellite DNA, we identify 230 regions of euchromatic DNA with frequent expansions and contractions, nearly half of which overlap with 197 protein-coding genes. Such variable and incompletely assembled regions are important targets for future algorithmic development and pangenome representation.
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- 2023
4. Faricimab Treat-and-Extend for Diabetic Macular Edema: Two-Year Results from the Randomized Phase 3 YOSEMITE and RHINE Trials
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Aaberg, Thomas, Jr., Abbey, Ashkan, Abdulaeva, Elmira, Abengoechea, Santiago, Abraham, Prema, Ach, Thomas, Adams, Serrhel, Adan Civera, Alfredo, Adrean, Sean, Agostini, Hansjurgen, Alam, Suhail, Alezzandrini, Arturo, Alfaro, Virgil, Aliseda, Daniel, Almony, Arghavan, Amat, Pedro, Amini, Payam, Antoszyk, Andrew, Arias, Luis, Asaria, Riaz, Avila, Marcos, Awh, Carl C., Bafalluy, Joaquin, Baker, Carl, Bandello, Francesco, Barakat, Mark, Barraza, Karen, Bator, Gyorgy, Baumal, Caroline, Belfort, Rubens, Jr., Bergstrom, Chris, Bertolucci, George, Bochow, Thomas, Bolz, Matthias, Borcz, Emilia, Bordon, Arnaldo, Boyer, David, Bratko, Galina, Brent, Michael, Brown, Jamin, Brown, David M., Budzinskaya, Maria, Buffet, Sylvia, Burgess, Stuart, Burton, Ben, Busquets, Miguel, Cabrera, Francisco, Cagini, Carlo, Calzada, Jorge, Campochiaro, Peter, Carlson, John, Castellarin, Alessandro, Cava, Carlos, Chaikitmongkol, Voraporn, Chan, Clement, Chang, Emmanuel, Chang, Jonathan, Chang, Andrew, Charles, Steve, Chaudhry, Nauman, Chee, Caroline, Chen, Judy, Chen, Fred, Chen, Shih-Jen, Cheong-Leen, Richard, Chiang, Allen, Chittum, Mark, Chow, David, Connolly, Brian, Cornut, Pierre Loic, Csaky, Karl, Danzig, Carl, Das, Arup, Daskalov, Vesselin, Desco, Carmen, Dessouki, Amr, Dickinson, John, Do, Brian, Dollin, Michael, Dugel, Pravin, Dusova, Jaroslava, Eichenbaum, David, Eldem, Bora, Engstrom, Robert, Ernest, Jan, Escobar, Joan Josep, Esposti, Simona, Eter, Nicole, Falk, Naomi, Farkas, Andrej, Feiner, Leonard, Feltgen, Nicolas, Fernandez, Carlos, Fernandez Vega, Alvaro, Ferrone, Philip, Figueira, Joao, Figueroa, Marta, Findl, Oliver, Fine, Howard, Fortun, Jorge, Fox, Gregory M., Foxman, Scott, Framme, Carsten, Fraser-Bell, Samantha, Fu, Arthur, Fukutomi, Akira, Fung, Nicholas, Furno Sola, Federico, Gallego-Pinazo, Roberto, Garcia, Renata, Garcia-Layana, Alfredo, Gawecki, Maciej, George, Sheen, Ghanchi, Faruque, Ghorayeb, Ghassan, Goldberg, Roger, Goldstein, Michaella, Gomes, Nuno, Ulla, Francisco Gomez, Gonzalez, Victor, Greven, Craig, Gupta, Sunil, Guzman, Miguel, Harris, Martin, Hatz, Katja, Hau, Vivienne, Hau, Vincent, Hayashi, Ken, Heier, Jeffrey, Herba, Ewa, Hershberger, Vrinda, Higgins, Patrick, Hirakata, Akito, Ho, Allen, Holekamp, Nancy, Honda, Shigeru, Hsu, Jason, Hu, Allen, Hurcikova, Maria, Ikeda, Yasuhiro, Isernhagen, Ricky, Ito, Yasuki, Jackson, Tim, Jacoby, Rachael, Jafree, Afsar, Javey, Golnaz, Javid, Cameron, Jhaveri, Chirag, Johnson, Mark, Kacerík, Marek, Kaluzny, Jakub, Kampik, Daniel, Kang, Se Woong, Kapoor, Kapil, Karabas, Levent, Kawasaki, Tsutomu, Kerenyi, Agnes, Khanani, Arshad, Khurana, Rahul, Kim, Brian, Kimura, Kazuhiro, Kishino, Genichiro, Kitano, Shigehiko, Klein-Mascia, Kendra, Kokame, Gregg, Korobelnik, Jean Francois, Kulikov, Alexey, Kuriyan, Ajay, Kwong, Henry, Kwun, Robert, Lai, Timothy, Lai, Chi-Chun, Laird, Philip, Lalonde, Laurent, Lanzetta, Paolo, Larsen, Michael, Laugesen, Caroline, Lavinsky, Daniel, Lebreton, Olivier, Lee, Seong, Levy, Jaime, Lipkova, Blandina, Liu, Mimi, Liu, Judy, Lohmann, Chris P., London, Nikolas, Lorenz, Katrin, Lotery, Andrew, Lozano Rechy, David, Lujan, Silvio, Ma, Patrick, Maeno, Takatoshi, Mahmood, Sajjad, Makkouk, Fuad, Malik, Khurram, Marcus, Dennis, Margherio, Alan, Mastropasqua, Leonardo, Maturi, Raj, McCabe, Frank, McKibbin, Martin, Mehta, Hemal, Menon, Geeta, Mentes, Jale, Michalska-Malecka, Katarzyna, Misheva, Aneta, Mitamura, Yoshinori, Mitchell, Paul, Modi, Yasha, Mohamed, Quresh, Montero, Javier, Moore, Jeffrey, Morales Canton, Virgilio, Morori-Katz, Haia, Morugova, Tatiana, Murakami, Tomoaki, Muzyka-Wozniak, Maria, Nardi, Marco, Nemcansky, Jan, Nester-Ostrowska, Kamila, Neto, Julio, Newell, Charles, Nicolo, Massimo, Nielsen, Jared, Noda, Kousuke, Obana, Akira, Ogata, Nahoko, Oh, Hideyasu, Oh, Kean, Ohr, Matthew, Oleksy, Piotr, Oliver, Scott, Olivier, Sebastien, Osher, James, Ozcalışkan, Sehnaz, Ozturk, Banu, Papp, Andras, Park, Kyu Hyung, Parke, D. Wilkin, Parravano, Maria Cristina, Patel, Sugat, Patel, Sunil, Pearce, Ian, Pearlman, Joel, Penha, Fernando, Perente, Irfan, Perkins, Stephen, Pertile, Grazia, Petkova, Iva, Peto, Tunde, Pieramici, Dante, Pollreisz, Andreas, Pongsachareonnont, Pear, Pozdeyeva, Nadezhda, Priglinger, Siegfried, Qureshi, Jawad, Raczynska, Dorota, Rajagopalan, Rajesh, Ramirez Estudillo, Juan, Raskauskas, Paul, Rathod, Rajiv, Razavi, Hessam, Regillo, Carl, Ricci, Federico, Rofagha, Soraya, Romanczak, Dominika, Romanowska-Dixon, Bożena, Rosberger, Daniel, Rosenblatt, Irit, Rosenblatt, Brett, Ross, Adam, Ruamviboonsuk, Paisan, Ruiz Moreno, Jose Maria, Salomão, Gustavo, Sandhu, Sukhpal, Sandner, Dirk, Sararols, Laura, Sawada, Osamu, Schadlu, Ramin, Schlottmann, Patricio, Schuart, Claudia, Seitz, Berthold, Seres, András, Sermet, Figen, Shah, Sandeep, Shah, Ankur, Shah, Rohan, Sharma, Sumit, Sheidow, Thomas, Sheth, Veeral, Shimouchi, Akito, Shimura, Masahiko, Sikorski, Bartosz, Silva, Rufino, Singer, Michael, Singerman, Lawrence, Singh, Rishi, Souied, Eric, Spinak, David J., Spital, Georg, Steinle, Nathan, Stern, Jeffrey, Stoller, Glenn, Stoltz, Robert, Stone, Cameron, Stone, Amy, Suan, Eric, Sugimoto, Masahiko, Sugita, Iichiro, Sun, Jennifer, Sun, Xiaodong, Suner, Ivan, Szalczer, Lajos, Szecsko, Timea, Tabassian, Ali, Tadayoni, Ramin, Takagi, Hitoshi, Takayama, Kei, Taleb, Alexandre, Talks, James, Tan, Gavin, Tanabe, Teruyo, Taylor, Stanford, Thach, Allen, Thompson, John, Tlucek, Paul, Torti, Robert, Tosheva Guneva, Daniela, Toth-Molnar, Edit, Uchiyama, Eduardo, Vajas, Attila, Varma, Deepali, Varsanyi, Balazs, Vassileva, Petja, Vaz-Pereira, Sara, Veith, Miroslav, Vela, Jose Ignacio, Viola, Francesco, Virgili, Gianni, Vogt, Gábor, Vorum, Henrik, Weber, Pamela, Wecke, Thoalf, Wee, Raymond, Weger, Martin, Weishaar, Paul, Wells, John A., Wickremasinghe, Sanjeewa, Williams, Thomas Reginald, Williams, Thomas, Williams, Geoff, Wolf, Armin, Wolfe, Jeremy, Wong, James, Wong, David, Wong, Ian, Wong, Robert, Wowra, Bogumil, Wykoff, Charles C., Wylęgała, Edward, Yang, Chang-Hao, Yasukawa, Tsutomu, Yates, Paul, Yilmaz, Gursel, Yiu, Glenn, Yoon, Young Hee, Yoreh, Barak, Yoshida, Shigeo, Yu, Hyeong Gon, Yu, Seung Young, Yurieva, Tatiana, Zacharias, Leandro, Zaczek Zakrzewska, Karolina, Zambrano, Alberto, Zatorska, Barbara, Zeolite, Carlos, Zheutlin, Jeffrey, Wong, Tien Y., Haskova, Zdenka, Asik, Kemal, Baumal, Caroline R., Csaky, Karl G., Ives, Jane A., Jaffe, Glenn J., Korobelnik, Jean-François, Lin, Hugh, Murata, Toshinori, Schlottmann, Patricio G., Seres, András I., Silverman, David, and Tang, Yannan
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- 2024
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5. A Randomized Trial of Photobiomodulation Therapy for Center-Involved Diabetic Macular Edema with Good Visual Acuity (Protocol AE)
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Kim, Judy E, Glassman, Adam R, Josic, Kristin, Melia, Michele, Aiello, Lloyd P, Baker, Carl, Eells, Janis T, Jampol, Lee M, Kern, Timothy S, Marcus, Dennis, Salehi-Had, Hani, Shah, Sandeep N, Martin, Daniel F, Stockdale, Cynthia R, Sun, Jennifer K, and Network, DRCR Retina
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Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Neurosciences ,Eye Disease and Disorders of Vision ,Clinical Trials and Supportive Activities ,Clinical Research ,Diabetes ,Evaluation of treatments and therapeutic interventions ,6.1 Pharmaceuticals ,Eye ,Adult ,Angiogenesis Inhibitors ,Clinical Trials ,Phase II as Topic ,Diabetes Mellitus ,Diabetic Retinopathy ,Female ,Humans ,Low-Level Light Therapy ,Macular Edema ,Male ,Middle Aged ,Randomized Controlled Trials as Topic ,Tomography ,Optical Coherence ,Visual Acuity ,Diabetic macular edema ,DRCR Retina Network ,photobiomodulation ,Ophthalmology and optometry - Abstract
PurposeTo determine if treatment with a photobiomodulation (PBM) device results in greater improvement in central subfield thickness (CST) than placebo in eyes with center-involved diabetic macular edema (CI-DME) and good vision.DesignPhase 2 randomized clinical trial.ParticipantsParticipants had CI-DME and visual acuity (VA) 20/25 or better in the study eye and were recruited from 23 clinical sites in the United States.MethodsOne eye of each participant was randomly assigned 1:1 to a 670-nm light-emitting PBM eye patch or an identical device emitting broad-spectrum white light at low power. Treatment was applied for 90 seconds twice daily for 4 months.Main outcome measuresChange in CST on spectral-domain OCT at 4 months.ResultsFrom April 2019 to February 2020, 135 adults were randomly assigned to either PBM (n = 69) or placebo (n = 66); median age was 62 years, 37% were women, and 82% were White. The median device compliance was 92% with PBM and 95% with placebo. OCT CST increased from baseline to 4 months by a mean (SD) of 13 (53) μm in PBM eyes and 15 (57) μm in placebo eyes, with the mean difference (95% confidence interval [CI]) being -2 (-20 to 16) μm (P = 0.84). CI-DME, based on DRCR Retina Network sex- and machine-based thresholds, was present in 61 (90%) PBM eyes and 57 (86%) placebo eyes at 4 months (adjusted odds ratio [95% CI] = 1.30 (0.44-3.83); P = 0.63). VA decreased by a mean (SD) of -0.2 (5.5) letters and -0.6 (4.6) letters in the PBM and placebo groups, respectively (difference [95% CI] = 0.4 (-1.3 to 2.0) letters; P = 0.64). There were 8 adverse events possibly related to the PBM device and 2 adverse events possibly related to the placebo device. None were serious.ConclusionsPBM as given in this study, although safe and well-tolerated, was not found to be effective for the treatment of CI-DME in eyes with good vision.
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- 2022
6. Assessment of Baseline Ultrawidefield Fluorescein Angiographic Quantitative Leakage Parameters with Ultrawidefield Fundus Features and Clinical Parameters in Diabetic Retinopathy in Protocol AA
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Harara, Abla M., Palacios, Angela N., Berger, Brian B., Corak, Boris, Luong, Bianca, Jhaveri, Chirag D., Wilson, Daniela Mariel, Jonna, Gowtham, Gunderson, Ivana, Hosein, Kimberly, Reid, Ryan M., Chexal, Saradha, Moore, Tori, Seidu, Tina A., Gatavaski, Valerie, Ren, Yong, Stern, Bradley A., Benvenutti, Celia E., Oude-Reimerink, Dinah S., Shaheen, Jenny, Grybas, John, Vitale-Kuhn, Julianne, Staffne, Jessica L., Ventimiglia, Katie M., Allis, Megan, Monk, Mary K., Thomas, Marc E., Massu, Nicole M., Edwards, Paul Andrew, Troszak, Tracy A., Irons, Amber N., Rego, Brittany, Han, Dennis P., Dorsey, Eleanor, Nelson, Erika, Sheppard, Hannah, Beringer, Joseph R., Kim, Judy E., Keller, Kristy L., Packard, Krissa L., Altmann, Marriner L., Goldberg, Mara, Chen, Nickolas, Winter, Pat A., Bourgeois, Shay, Jacobo, Samantha, Moebius, Stephanie J., Connor, Thomas B., Barwick, Vicki, Williams, Vesper V., Wirostko, William J., Ghuman, A. Thomas, Leslie, Anita H., Sharma, Ashish G., Kiesel, Cheryl, Dyshanowitz, Danielle, Knips, Eileen, Wing, Glenn, Walker, Joseph P., Raskauskas, Paul A., Kiesel, Raymond K., Schlossman, Deborah K., Weimann, Elizabeth S., Sharuk, George S., Kwak, Hanna, Cavallerano, Jerry D., Rhee, Jae W., Sampani, Konstantina, Tran, Katie V., Bestourous, Leila, Miranda, Linette, Krigman, Michael N., Stockman, Margaret E., Arrigg, Paul G., Cavicchi, Robert W., Kirby, Rita K., Glynn, Shireen, Papaconstantinou, Steve L., Shah, Sabera T., Murtha, Timothy J., Carli, William, Finch, Autumn K., Gentile, Angella K., Price, Angela K., Murphy, Brittany A., Rowland, Beverly O., Fleming, Christina J., Mahr, Courtney, Shore, Carol A., Browning, David, McClain, Donna, Breglio, Erica, Lester, Gina M., Herby, Jenna T., Bratcher, Kayla A., Clark, Loraine M., Jackson, Lisa A., Watson, Lynn, McOwen, Michael D., Punjabi, Omar S., Bojaj, Swann J., Ennis, Sarah A., Fredenberg, Sherry L., Jones, Taylor S., Ragin, Teneisha A., Balasubramaniam, Uma M., Ornelas, Blanca, Rodriquez, Brenda, Edwards, Carla, Carns, Danielle R., Tonner, Eileen E., Woo, Kisung, Richine, Len, MacCumber, Mathew W., Merrill, Pauline Townsend, Kociborski, Sarah, Harless, Ashley M., Harris, Charlotte, White, Lorraine, Maturi, Raj K., Asher, Julie, Walsh, Justin, Wheeler, Jeff, Milstead, Katie, Oliver, Kristina, Lovelady, Lisa, Anderson, Nicholas G., Coppola, Patricia, Lince, Raul E., Shuler, R. Keith, Morris, Steve, Oelrich, Sarah M., Gardner, Brandon S., Moore, Bob, Cain, Dennis, Donohue, Deborah, Emmert, David, Adeyemo, Kemi, Levin, Lisa K., Frey, Mary, Rhoton, Nick, Bressler, Susan, Solomon, Sharon D., Ford, Amy L., Hughes, Ashley, Brewer, Alisha N., Booth, JoAnn T., Lunsford, Keven W., Ukleya, Lauren D., Burris, Russ, Kingsley, Ronald M., Almeida, Shannon R., Icks, Sonny, Shah, Vinay A., Bergman, Vanessa A., Castellarin, Alessandro A., Shook, Aimee H., Walker, Aimee, Pieramici, Dante J., Hong, Gina, Avery, Kelly, McKee, Kate M., Giust, Matthew, Munoz, Marco A., Fishbein, Sarah, Camp, Alecia B., Baker, Carl W., Baker, Jil D., Sedberry, Kylie S., Lambert, Lynnette F., Orr, Margaret J., Alcaraz, Sonya L., Kettler, Samantha, Caldwell, Tracey M., Miller, Abigail, Dorr, Christine M., Hampton, G. Robert, Brown, Jamin S., Barker, Jeffrey P., Rosenberg, Kevin I., Kwasniewski, Lynn M., Sienkiewycz, Laurie J., Spuches, Lisa, Manley, Michelle L., Robarge, Nicole E., DeSantis, Stefanie R., DeForge, Teresa M., Brucker, Alexander J., Kim, Benjamin J., Berger, Jim M., DuPont, Joan C., Drossner, Sheri, Freeman, Sara, Studebaker, Ashley, Payne, John F., Wells, John A., Spivey, Robbin, Ogbuewu, Tiffany N., Swinford, Tiffany R., Guillory, Adrienne, Hutson, Amy, Schefler, Amy C., Shah, Ankoor R., Almanza, Belinda A., Dives, Brenda, Richter, Beau A., Stoever, Cary A., Brown, David M., Foerster, Danee, Garcia, David, Rodriguez, Diana, Park, Daniel, Chen, Eric, Kegley, Eric N., Quellar, Elizabeth, Twining, Garret L., Koger-Grifaldo, Heather, Ortega, Ilsa, Carranza, Jolene, Major, James C., Williamson, Kimberly, Burt, Lindsay, Salinas, Luis R., Wolff, Lisa M., Benz, Matthew S., Estes, Maura A., James, Miranda F., Berry, Meredith, Vela, Melina, Landaverde, Nubia, Webb, Nina A., Fish, Richard H., Kim, Rosa Y., Yee, Rebecca, Karani, Sadia Y., Supapo, Stacy M., Dodel, Tamara L., McCoy, Tyneisha, Wong, Tien P., Sneed, Veronica A., Barnhart, Cassandra J., Cantrell, Debra, DuBose, Elizabeth L., Sharpe, Houston P., Ulrich, Jan Niklas, Bhansali, Kanika A., Esquejo, Rona Lyn, Garg, Seema, Grout, Sean, McKinney, Allen, Bobbitt, Brenda J., Wendel, Ceara L., Fagan, Damanda F., Andrews, Jacqueline, Holmes, Krystal Nikki, Seyez, Karen L., Williamson, Kimberly A., Moinfar, Nader, Walters, Paige N., Carlton, Steve, Rehling, Shannon M., Williams, Shana E., Reed, Tiara L., VandeVelde, Amber R., Yeager, Frank T., Fox, Gregory M., Batlle, Ivan R., Bruce, Kiersten, Pippin, Katherine, Ainley, Lexie R., Singh, Ravi S.J., Adamo, Ashley M., Guardado, Adrian, Patel, Apurva K., Puckett, Brian S., Hoerner, Christine, Ma, Colin, Clark, David J., Flato, Inessa M., Cohen, Joshua, Charpentier, Margaret E., Kopfer, Marcia, Peters, Mark A., Smith, Pualani, Tlucek, Paul S., Hobbs, Stephen, Ho, Stephanie L., Metzger, Ashley M., McCalla, Alesia K., Thompson, Amy, Ringrose, Christine, Sandler, Dallas R., Leder, Henry A., Belz, Jennifer L., Starr, JoAnn, Simmons, Jennifer L., Orr, Peggy R., Sotirakos, Peter, Singletary, Pamela V., Cain, Terri, Coffey, Teresa, Carter, Tiffany M., Robinson, Twyla J., Shah, Chirag P., Cammarata, Dominique, Kruger, Jennifer L., Colegrove, Lindsey, Graham, Margie, Gleason, Shane T., Noel, Bryan, Damron, Catherine, Holcomb, Diana M., Slade, Edward A., Van Arsdall, Jeanne, Bicknell, Lisa, Buck, Michelle, Stone, Thomas W., Farooq, Amina, Parsons, Brook, Singh, Harinderjit, Ivey, Ken, Foster, Lindsay Allison, Woodward, Michele, Ortiz, Siobhan O., Bailey, Thomas, Mynampati A, Bharani Krishna, White, Cheryl L., Hamdani, Ghulam Shabbir, Smith, Jazzmin N., Chalam, Kakarla V., Sambhav, Kumar, Babaria, Romesh, Grover, Sandeep, Carroll, Catherine, Chau, Felix Y., Lim, Jennifer I., Talasnik, Lauren A., Janowicz, Mark, Stankovic, Natasa, Berlatsky, Sarah L., Niec, Marcia, Sun, Jie, Johnson, Tametha, Ovando, Yesenia, Nakoski, Brenda, Mein, Calvin E., Wienecke, Christopher Sean, Castillo, Elaine, Baker, Jaynee, San Roman, Jonathan, Adams, Lydia, Kirschbaum, Lita, Chica, Moises A., Cloudt, Sara L., Moore, Tori R., Sabates, Felix N., Gallimore, Gary S., Chen, Yin C., Swann, Adrienne C., Cadwell, Deborah M., Diddie, Kenneth R., Boisvert, Taryn F., Tessau, Carrie D., Bowers, Jack, Nielsen, Jared S., Rostvold, Jay, Spillman, Jamie, Alliman, Kyle J., Boender, Lisa M., Johnson, Marilyn A., Parker, Marianne, Bix, Paula L., Ridgway, Spencer D., Woehl, Tami Jo, Stonewall, Whitney, Brown, Christopher M., Lema, Gareth M.C., Wiechelt, Luann, Yoganathan, Pradeepa, Boglione, Sandra L., Montesclaros, Chris A., Mangham, Cory, Karsaliya, Gopal, Le, Phillip V., Wong, Robert W., Godfrey, Anne Marie, Kuzmanovic, Aleksandra, Kirker, Andrew William, Harrison, Bryan, Forooghian, Farzin, Elvena, Garnet Louise, Hall, Laura J., Turhal, Bilgin, Brown, Ian, Kotei, Isaac A., Chen, Lina, Brent, Michael Henry, Moon, Michelle, Sutakovic, Olivera, Chang, Angela, Godfrey, Anne-Marie, Albiani, David, Maberley, David A.L., Navajas, Eduardo Vitor, Grant, Kelly, Tran, Khoi A., Jovanovic, Mira, Cao, Sijia, Wiens, Theresa, Kozbial, Andrzej, Orlin, Anton, Lenane, Courtney Nichole, Herder, Susan P., Kiss, Szilard, Reeves, Tom, Cruess, Alan F., Dean, Andrea, Hoskin-Mott, Ann, Morrison, Christine, Caldwell, Meggie D., Hynes, Mitzi, Gupta, R. Rishi, Durling, Stacey, MacDonnell, Trina, Beck, Roy W., Baptista, Alyssa, Beaulieu, Wesley T., Calhoun, Claire T., Constantine, Sharon R., Correia, Isabella, Dale, Brian B., Dupre, Simone S., Franklin, Crystal A., Galusic, Sandra, Huggins, Meagan, Hunter, Brenda L., Johnson, Paula A., Josic, Kristin, Kelly, Brittany, Maguire, Maureen G., Meadows, Britney, Stockdale, Cynthia R., Zokruah, Alice, Bhargava, Sangeeta, Barkmeier, Andrew J., Baskin, Darrell, Blodi, Barbra, Chew, Emily, Ferris, Frederick L., Jaffe, Glenn J., Bressler, Neil M., Lujan, Brandon, Tolls, Dorothy, Sheridan, Daniel, Pitoc, Cloyd M., Anne C Aquino, Lizzie, Salva, Claude Michael G., Lewis, Drew, Stainback, Jeffery, Makkena, Vijaya, Winter, Katrina, Mora, Adiel, Harrington, Chris, Vinh, Doc-Lap, Ehlers, Justis P., Yordi, Sari, Martin, Alison, Srivastava, Sunil K., and Sun, Jenifer K.
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- 2024
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7. The 0.19-mg Fluocinolone Acetonide Intravitreal Implant for Diabetic Macular Edema: Intraocular Pressure-Related Effects over 36 Months
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Abdelsalam, Ahmed, Shakoor, Akbar, Moshiri, Ala, Barkmeier, Andrew, Tewari, Asheesh, Baker, Carl, Kiernan, Daniel, Rosberger, Daniel, Roth, Daniel, Eichenbaum, David, Malik, Deepika, Marcus, Dennis, Dehning, Doug, Reichel, Elias, Tilton, Elisha, Fu, Evelyn, Kokame, Gregg, Salehi-Had, Hani, Bhatt, Harit, Nielsen, Jared, Prensky, Jay, Lim, Jennifer, Adleberg, Jon, Beck, Joseph, Gunn, Joseph, Podhorzer, Joseph, Small, Kent, Kooragayala, Lakshmana, Freisberg, Lars, Schocket, Lisa, Berrocal, Maria, Worrall, Martin, Cassell, Michael, Singer, Michael, Tsipursky, Michael, Holekamp, Nancy, Weber, Pamela, Merrill, Pauline, Campochiaro, Peter, Dugel, Pravin, Khurana, Rahul, Apte, Rajendra, Rathod, Rajiv, Katz, Randy, Chace, Richard, Kwun, Robert, Grigorian, Ruben, Mansour, Sam, Chexal, Saradha, Madreperla, Steven, Gonzalez, Victor, Aldred, William, Roth, Daniel B., Radcliffe, Nathan M., Cutino, Antonio, and Small, Kent W.
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- 2024
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8. The New Zealand Bill of Rights Act 1990 and the law of contract
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Baker, Carl
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- 2001
9. The 'tainted derivative evidence' doctrine in New Zealand
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Baker, Carl
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- 2000
10. Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome
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Liao, Wen-Wei, Asri, Mobin, Ebler, Jana, Doerr, Daniel, Haukness, Marina, Hickey, Glenn, Lu, Shuangjia, Lucas, Julian K., Monlong, Jean, Abel, Haley J., Buonaiuto, Silvia, Chang, Xian H., Cheng, Haoyu, Chu, Justin, Colonna, Vincenza, Eizenga, Jordan M., Feng, Xiaowen, Fischer, Christian, Fulton, Robert S., Garg, Shilpa, Groza, Cristian, Guarracino, Andrea, Harvey, William T., Heumos, Simon, Howe, Kerstin, Jain, Miten, Lu, Tsung-Yu, Markello, Charles, Martin, Fergal J., Mitchell, Matthew W., Munson, Katherine M., Mwaniki, Moses Njagi, Novak, Adam M., Olsen, Hugh E., Pesout, Trevor, Porubsky, David, Prins, Pjotr, Sibbesen, Jonas A., Tomlinson, Chad, Villani, Flavia, Vollger, Mitchell R., Antonacci-Fulton, Lucinda L., Baid, Gunjan, Baker, Carl A., Belyaeva, Anastasiya, Billis, Konstantinos, Carroll, Andrew, Chang, Pi-Chuan, Cody, Sarah, Cook, Daniel E., Cornejo, Omar E., Diekhans, Mark, Ebert, Peter, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L., Formenti, Giulio, Frankish, Adam, Gao, Yan, Giron, Carlos Garcia, Green, Richard E., Haggerty, Leanne, Hoekzema, Kendra, Hourlier, Thibaut, Ji, Hanlee P., Kolesnikov, Alexey, Korbel, Jan O., Kordosky, Jennifer, Lee, HoJoon, Lewis, Alexandra P., Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, McDaniel, Jennifer, Mountcastle, Jacquelyn, Nattestad, Maria, Olson, Nathan D., Puiu, Daniela, Regier, Allison A., Rhie, Arang, Sacco, Samuel, Sanders, Ashley D., Schneider, Valerie A., Schultz, Baergen I., Shafin, Kishwar, Sirén, Jouni, Smith, Michael W., Sofia, Heidi J., Abou Tayoun, Ahmad N., Thibaud-Nissen, Françoise, Tricomi, Francesca Floriana, Wagner, Justin, Wood, Jonathan M.D., Zimin, Aleksey V., Popejoy, Alice B., Bourque, Guillaume, Chaisson, Mark J.P., Flicek, Paul, Phillippy, Adam M., Zook, Justin M., Eichler, Evan E., Haussler, David, Jarvis, Erich D., Miga, Karen H., Wang, Ting, Garrison, Erik, Marschall, Tobias, Hall, Ira, Li, Heng, Paten, Benedict, Greer, Stephanie U., Pavlichin, Dmitri S., Zhou, Bo, Urban, Alexander E., and Weissman, Tsachy
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- 2023
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11. BETTER BASELINE VISION LEADS TO BETTER OUTCOMES AFTER THE 0.19-mg FLUOCINOLONE ACETONIDE INTRAVITREAL IMPLANT IN DIABETIC MACULAR EDEMA
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Gonzalez, Victor H., Luo, Caesar, Almeida, David R.P., Cutino, Antonio, Coughlin, Brandon, Kasper, Jonathan, Kiernan, Daniel F., Abdelsalam, Ahmed, Shakoor, Akbar, Moshiri, Ala, Barkmeier, Andrew, Tewari, Asheesh, Baker, Carl, Kiernan, Daniel, Rosberger, Daniel, Roth, Daniel, Eichenbaum, David, Malik, Deepika, Marcus, Dennis, Dehning, Doug, Reichel, Elias, Tilton, Elisha, Fu, Evelyn, Kokame, Gregg, Salehi-Had, Hani, Bhatt, Harit, Nielsen, Jared, Prensky, Jay, Lim, Jennifer, Adleberg, Jon, Beck, Joseph, Gunn, Joseph, Podhorzer, Joseph, Small, Kent, Kooragayala, Lakshmana, Freisberg, Lars, Schocket, Lisa, Berrocal, Maria, Worrall, Martin, Cassell, Michael, Singer, Michael, Tsipursky, Michael, Holekamp, Nancy, Weber, Pamela, Merrill, Pauline, Campochiaro, Peter, Dugel, Pravin, Khurana, Rahul, Apte, Rajendra, Rathod, Rajiv, Katz, Randy, Chace, Richard, Kwun, Robert, Grigorian, Ruben, Mansour, Sam, Chexal, Saradha, Madreperla, Steven, Gonzalez, Victor, and Aldred, William
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- 2023
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12. Efficacy, durability, and safety of intravitreal faricimab with extended dosing up to every 16 weeks in patients with diabetic macular oedema (YOSEMITE and RHINE): two randomised, double-masked, phase 3 trials
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Aaberg, Thomas, Jr, Abbey, Ashkan, Abdulaeva, Elmira, Abengoechea, Santiago, Abraham, Prema, Ach, Thomas, Adams, Serrhel, Adan Civera, Alfredo, Adrean, Sean, Agostini, Hansjurgen, Alam, Suhail, Alezzandrini, Arturo, Alfaro, Virgil, Aliseda, Daniel, Almony, Arghavan, Amat, Pedro, Amini, Payam, Antoszyk, Andrew, Arias, Luis, Asaria, Riaz, Avila, Marcos, Awh, Carl C, Bafalluy, Joaquin, Baker, Carl, Bandello, Francesco, Barakat, Mark, Barraza, Karen, Bator, Gyorgy, Baumal, Caroline, Belfort Jr, Rubens, Bergstrom, Chris, Bertolucci, George, Bochow, Thomas, Bolz, Matthias, Borcz, Emilia, Bordon, Arnaldo, Boyer, David, Bratko, Galina, Brent, Michael, Brown, Jamin, Brown, David M, Budzinskaya, Maria, Buffet, Sylvia, Burgess, Stuart, Burton, Ben, Busquets, Miguel, Cabrera, Francisco, Cagini, Carlo, Calzada, Jorge, Campochiaro, Peter, Carlson, John, Castellarin, Alessandro, Cava, Carlos, Chaikitmongkol, Voraporn, Chan, Clement, Chang, Emmanuel, Chang, Jonathan, Chang, Andrew, Charles, Steve, Chaudhry, Nauman, Chee, Caroline, Chen, Judy, Chen, Fred, Chen, Shih-Jen, Cheong-Leen, Richard, Chiang, Allen, Chittum, Mark, Chow, David, Connolly, Brian, Cornut, Pierre Loic, Csaky, Karl, Danzig, Carl, Das, Arup, Daskalov, Vesselin, Desco, Carmen, Dessouki, Amr, Dickinson, John, Do, Brian, Dollin, Michael, Dugel, Pravin, Dusova, Jaroslava, Eichenbaum, David, Eldem, Bora, Engstrom, Robert, Ernest, Jan, Escobar, Joan Josep, Esposti, Simona, Eter, Nicole, Falk, Naomi, Farkas, Andrej, Feiner, Leonard, Feltgen, Nicolas, Fernandez, Carlos, Fernandez Vega, Alvaro, Ferrone, Philip, Figueira, Joao, Figueroa, Marta, Findl, .Oliver, Fine, Howard, Fortun, Jorge, Fox, Gregory M, Foxman, Scott, Framme, Carsten, Fraser-Bell, Samantha, Fu, Arthur, Fukutomi, Akira, Fung, Nicholas, Furno Sola, Federico, Gallego-Pinazo, Roberto, Garcia, Renata, Garcia-Layana, Alfredo, Gawecki, Maciej, George, Sheen, Ghanchi, Faruque, Ghorayeb, Ghassan, Goldberg, Roger, Goldstein, Michaella, Gomes, Nuno, Gomez Ulla, Francisco, Gonzalez, Victor, Greven, Craig, Gupta, Sunil, Guzman, Miguel, Harris, Martin, Hatz, Katja, Hau, Vivienne, Hau, Vincent, Hayashi, Ken, Heier, Jeffrey, Herba, Ewa, Hershberger, Vrinda, Higgins, Patrick, Hirakata, Akito, Ho, Allen, Holekamp, Nancy, Honda, Shigeru, Hsu, Jason, Hu, Allen, Hurcikova, Maria, Ikeda, Yasuhiro, Isernhagen, Ricky, Ito, Yasuki, Jackson, Tim, Jacoby, Rachael, Jafree, Afsar, Javey, Golnaz, Javid, Cameron, Jhaveri, Chirag, Johnson, Mark, Kacerík, Marek, Kaluzny, Jakub, Kampik, Daniel, Kang, Se Woong, Kapoor, Kapil, Karabas, Levent, Kawasaki, Tsutomu, Kerenyi, Agnes, Khanani, Arshad, Khurana, Rahul, Kim, Brian, Kimura, Kazuhiro, Kishino, Genichiro, Kitano, Shigehiko, Klein-Mascia, Kendra, Kokame, Gregg, Korobelnik, Jean Francois, Kulikov, Alexey, Kuriyan, Ajay, Kwong, Henry, Kwun, Robert, Lai, Timothy, Lai, Chi-Chun, Laird, Philip, Lalonde, Laurent, Lanzetta, Paolo, Larsen, Michael, Laugesen, Caroline, Lavinsky, Daniel, Lebreton, Olivier, Lee, Seong, Levy, Jaime, Lipkova, Blandina, Liu, Mimi, Liu, Judy, Lohmann, Chris P, London, Nikolas, Lorenz, Katrin, Lotery, Andrew, Lozano Rechy, David, Lujan, Silvio, Ma, Patrick, Maeno, Takatoshi, Mahmood, Sajjad, Makkouk, Fuad, Malik, Khurram, Marcus, Dennis, Margherio, Alan, Mastropasqua, Leonardo, Maturi, Raj, McCabe, Frank, McKibbin, Martin, Mehta, Hemal, Menon, Geeta, Mentes, Jale, Michalska-Malecka, Katarzyna, Misheva, Aneta, Mitamura, Yoshinori, Mitchell, Paul, Modi, Yasha, Mohamed, Quresh, Montero, Javier, Moore, Jeffrey, Morales Canton, Virgilio, Morori-Katz, Haia, Morugova, Tatiana, Murakami, Tomoaki, Muzyka-Wozniak, Maria, Nardi, Marco, Nemcansky, Jan, Nester-Ostrowska, Kamila, Neto, Julio, Newell, Charles, Nicolo, Massimo, Nielsen, Jared, Noda, Kousuke, Obana, Akira, Ogata, Nahoko, Oh, Hideyasu, Oh, Kean, Ohr, Matthew, Oleksy, Piotr, Oliver, Scott, Olivier, Sebastien, Osher, James, Ozcalişkan, Sehnaz, Ozturk, Banu, Papp, Andras, Park, Kyu Hyung, Parke, D Wilkin, Parravano, Maria Cristina, Patel, Sugat, Patel, Sunil, Pearce, Ian, Pearlman, Joel, Penha, Fernando, Perente, Irfan, Perkins, Stephen, Pertile, Grazia, Petkova, Iva, Peto, Tunde, Pieramici, Dante, Pollreisz, Andreas, Pongsachareonnont, Pear, Pozdeyeva, Nadezhda, Priglinger, Siegfried, Qureshi, Jawad, Raczynska, Dorota, Rajagopalan, Rajesh, Ramirez Estudillo, Juan, Raskauskas, Paul, Rathod, Rajiv, Razavi, Hessam, Regillo, Carl, Ricci, Federico, Rofagha, Soraya, Romanczak, Dominika, Romanowska-Dixon, Bożena, Rosberger, Daniel, Rosenblatt, Irit, Rosenblatt, Brett, Ross, Adam, Ruamviboonsuk, Paisan, Ruiz Moreno, Jose Maria, Salomão, Gustavo, Sandhu, Sukhpal, Sandner, Dirk, Sararols, Laura, Sawada, Osamu, Schadlu, Ramin, Schlottmann, Patricio, Schuart, Claudia, Seitz, Berthold, Seres, András, Sermet, Figen, Shah, Sandeep, Shah, Ankur, Shah, Rohan, Sharma, Sumit, Sheidow, Thomas, Sheth, Veeral, Shimouchi, Akito, Shimura, Masahiko, Sikorski, Bartosz, Silva, Rufino, Singer, Michael, Singerman, Lawrence, Singh, Rishi, Souied, Eric, Spinak, David J, Spital, Georg, Steinle, Nathan, Stern, Jeffrey, Stoller, Glenn, Stoltz, Robert, Stone, Cameron, Stone, Amy, Suan, Eric, Sugimoto, Masahiko, Sugita, Iichiro, Sun, Jennifer, Sun, Xiaodong, Suner, Ivan, Szalczer, Lajos, Szecsko, Timea, Tabassian, Ali, Tadayoni, Ramin, Takagi, Hitoshi, Takayama, Kei, Taleb, Alexandre, Talks, James, Tan, Gavin, Tanabe, Teruyo, Taylor, Stanford, Thach, Allen, Thompson, John, Tlucek, Paul, Torti, Robert, Tosheva Guneva, Daniela, Toth-Molnar, Edit, Uchiyama, Eduardo, Vajas, Attila, Varma, Deepali, Varsanyi, Balazs, Vassileva, Petja, Vaz-Pereira, Sara, Veith, Miroslav, Vela, Jose Ignacio, Viola, Francesco, Virgili, Gianni, Vogt, Gábor, Vorum, Henrik, Weber, Pamela, Wecke, Thoalf, Wee, Raymond, Weger, Martin, Weishaar, Paul, Wells, John A, Wickremasinghe, Sanjeewa, Williams, Thomas Reginald, Williams, Thomas, Williams, Geoff, Wolf, Armin, Wolfe, Jeremy, Wong, James, Wong, David, Wong, Ian, Wong, Robert, Wowra, Bogumil, Wykoff, Charles C, Wylęgała, Edward, Yang, Chang-Hao, Yasukawa, Tsutomu, Yates, Paul, Yilmaz, Gursel, Yiu, Glenn, Yoon, Young Hee, Yoreh, Barak, Yoshida, Shigeo, Yu, Hyeong Gon, Yu, Seung Young, Yurieva, Tatiana, Zacharias, Leandro, Zaczek Zakrzewska, Karolina, Zambrano, Alberto, Zatorska, Barbara, Zeolite, Carlos, Zheutlin, Jeffrey, Abreu, Francis, Adamis, Anthony P, Basu, Karen, Eichenbaum, David A, Haskova, Zdenka, Lin, Hugh, Loewenstein, Anat, Mohan, Shaun, Pearce, Ian A, Sakamoto, Taiji, Schlottmann, Patricio G, Silverman, David, Sun, Jennifer K, and Willis, Jeffrey R
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- 2022
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13. High-resolution comparative analysis of great ape genomes
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Kronenberg, Zev N, Fiddes, Ian T, Gordon, David, Murali, Shwetha, Cantsilieris, Stuart, Meyerson, Olivia S, Underwood, Jason G, Nelson, Bradley J, Chaisson, Mark JP, Dougherty, Max L, Munson, Katherine M, Hastie, Alex R, Diekhans, Mark, Hormozdiari, Fereydoun, Lorusso, Nicola, Hoekzema, Kendra, Qiu, Ruolan, Clark, Karen, Raja, Archana, Welch, AnneMarie E, Sorensen, Melanie, Baker, Carl, Fulton, Robert S, Armstrong, Joel, Graves-Lindsay, Tina A, Denli, Ahmet M, Hoppe, Emma R, Hsieh, PingHsun, Hill, Christopher M, Pang, Andy Wing Chun, Lee, Joyce, Lam, Ernest T, Dutcher, Susan K, Gage, Fred H, Warren, Wesley C, Shendure, Jay, Haussler, David, Schneider, Valerie A, Cao, Han, Ventura, Mario, Wilson, Richard K, Paten, Benedict, Pollen, Alex, and Eichler, Evan E
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Stem Cell Research ,Human Genome ,Biotechnology ,Aetiology ,Underpinning research ,1.1 Normal biological development and functioning ,2.1 Biological and endogenous factors ,Generic health relevance ,Animals ,Contig Mapping ,Evolution ,Molecular ,Genetic Variation ,Genome ,Human ,Hominidae ,Humans ,Molecular Sequence Annotation ,Sequence Analysis ,DNA ,General Science & Technology - Abstract
Genetic studies of human evolution require high-quality contiguous ape genome assemblies that are not guided by the human reference. We coupled long-read sequence assembly and full-length complementary DNA sequencing with a multiplatform scaffolding approach to produce ab initio chimpanzee and orangutan genome assemblies. By comparing these with two long-read de novo human genome assemblies and a gorilla genome assembly, we characterized lineage-specific and shared great ape genetic variation ranging from single- to mega-base pair-sized variants. We identified ~17,000 fixed human-specific structural variants identifying genic and putative regulatory changes that have emerged in humans since divergence from nonhuman apes. Interestingly, these variants are enriched near genes that are down-regulated in human compared to chimpanzee cerebral organoids, particularly in cells analogous to radial glial neural progenitors.
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- 2018
14. The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution
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Smith, Jeramiah J, Timoshevskaya, Nataliya, Ye, Chengxi, Holt, Carson, Keinath, Melissa C, Parker, Hugo J, Cook, Malcolm E, Hess, Jon E, Narum, Shawn R, Lamanna, Francesco, Kaessmann, Henrik, Timoshevskiy, Vladimir A, Waterbury, Courtney KM, Saraceno, Cody, Wiedemann, Leanne M, Robb, Sofia MC, Baker, Carl, Eichler, Evan E, Hockman, Dorit, Sauka-Spengler, Tatjana, Yandell, Mark, Krumlauf, Robb, Elgar, Greg, and Amemiya, Chris T
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Stem Cell Research - Nonembryonic - Non-Human ,Human Genome ,Prevention ,Stem Cell Research ,Underpinning research ,1.1 Normal biological development and functioning ,Generic health relevance ,Animals ,Cellular Reprogramming ,Chromatin Assembly and Disassembly ,Evolution ,Molecular ,Genome ,Germ Cells ,Mutagenesis ,Petromyzon ,Vertebrates ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
The sea lamprey (Petromyzon marinus) serves as a comparative model for reconstructing vertebrate evolution. To enable more informed analyses, we developed a new assembly of the lamprey germline genome that integrates several complementary data sets. Analysis of this highly contiguous (chromosome-scale) assembly shows that both chromosomal and whole-genome duplications have played significant roles in the evolution of ancestral vertebrate and lamprey genomes, including chromosomes that carry the six lamprey HOX clusters. The assembly also contains several hundred genes that are reproducibly eliminated from somatic cells during early development in lamprey. Comparative analyses show that gnathostome (mouse) homologs of these genes are frequently marked by polycomb repressive complexes (PRCs) in embryonic stem cells, suggesting overlaps in the regulatory logic of somatic DNA elimination and bivalent states that are regulated by early embryonic PRCs. This new assembly will enhance diverse studies that are informed by lampreys' unique biology and evolutionary/comparative perspective.
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- 2018
15. The birth of a human-specific neural gene by incomplete duplication and gene fusion
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Dougherty, Max L, Nuttle, Xander, Penn, Osnat, Nelson, Bradley J, Huddleston, John, Baker, Carl, Harshman, Lana, Duyzend, Michael H, Ventura, Mario, Antonacci, Francesca, Sandstrom, Richard, Dennis, Megan Y, and Eichler, Evan E
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Stem Cell Research ,1.1 Normal biological development and functioning ,Underpinning research ,Generic health relevance ,Chromosome Aberrations ,Chromosome Breakpoints ,Chromosome Disorders ,Chromosomes ,Human ,Pair 1 ,DNA Copy Number Variations ,Evolution ,Molecular ,Gene Conversion ,Gene Duplication ,Gene Expression Profiling ,Gene Fusion ,Genetic Variation ,Genetics ,Population ,Genomics ,Humans ,Neurons ,Open Reading Frames ,Organ Specificity ,Phenotype ,Selection ,Genetic ,Transcription ,Genetic ,Evolution ,Segmental duplication ,Duplicate genes ,Gene fusion ,Long-read sequencing ,1q21 microdeletion/microduplication syndrome ,Environmental Sciences ,Information and Computing Sciences ,Bioinformatics - Abstract
BackgroundGene innovation by duplication is a fundamental evolutionary process but is difficult to study in humans due to the large size, high sequence identity, and mosaic nature of segmental duplication blocks. The human-specific gene hydrocephalus-inducing 2, HYDIN2, was generated by a 364 kbp duplication of 79 internal exons of the large ciliary gene HYDIN from chromosome 16q22.2 to chromosome 1q21.1. Because the HYDIN2 locus lacks the ancestral promoter and seven terminal exons of the progenitor gene, we sought to characterize transcription at this locus by coupling reverse transcription polymerase chain reaction and long-read sequencing.Results5' RACE indicates a transcription start site for HYDIN2 outside of the duplication and we observe fusion transcripts spanning both the 5' and 3' breakpoints. We observe extensive splicing diversity leading to the formation of altered open reading frames (ORFs) that appear to be under relaxed selection. We show that HYDIN2 adopted a new promoter that drives an altered pattern of expression, with highest levels in neural tissues. We estimate that the HYDIN duplication occurred ~3.2 million years ago and find that it is nearly fixed (99.9%) for diploid copy number in contemporary humans. Examination of 73 chromosome 1q21 rearrangement patients reveals that HYDIN2 is deleted or duplicated in most cases.ConclusionsTogether, these data support a model of rapid gene innovation by fusion of incomplete segmental duplications, altered tissue expression, and potential subfunctionalization or neofunctionalization of HYDIN2 early in the evolution of the Homo lineage.
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- 2017
16. The evolution and population diversity of human-specific segmental duplications.
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Dennis, Megan Y, Harshman, Lana, Nelson, Bradley J, Penn, Osnat, Cantsilieris, Stuart, Huddleston, John, Antonacci, Francesca, Penewit, Kelsi, Denman, Laura, Raja, Archana, Baker, Carl, Mark, Kenneth, Malig, Maika, Janke, Nicolette, Espinoza, Claudia, Stessman, Holly AF, Nuttle, Xander, Hoekzema, Kendra, Lindsay-Graves, Tina A, Wilson, Richard K, and Eichler, Evan E
- Abstract
Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution, genetic variation and coding potential of human-specific segmental duplications (HSDs). We identify 218 HSDs based on analysis of 322 deeply sequenced archaic and contemporary hominid genomes. We sequence 550 human and nonhuman primate genomic clones to reconstruct the evolution of the largest, most complex regions with protein-coding potential (N = 80 genes from 33 gene families). We show that HSDs are non-randomly organized, associate preferentially with ancestral ape duplications termed 'core duplicons' and evolved primarily in an interspersed inverted orientation. In addition to Homo sapiens-specific gene expansions (such as TCAF1/TCAF2), we highlight ten gene families (for example, ARHGAP11B and SRGAP2C) where copy number never returns to the ancestral state, there is evidence of mRNA splicing and no common gene-disruptive mutations are observed in the general population. Such duplicates are candidates for the evolution of human-specific adaptive traits.
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- 2017
17. A high-quality bonobo genome refines the analysis of hominid evolution
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Mao, Yafei, Catacchio, Claudia R., Hillier, LaDeana W., Porubsky, David, Li, Ruiyang, Sulovari, Arvis, Fernandes, Jason D., Montinaro, Francesco, Gordon, David S., Storer, Jessica M., Haukness, Marina, Fiddes, Ian T., Murali, Shwetha Canchi, Dishuck, Philip C., Hsieh, PingHsun, Harvey, William T., Audano, Peter A., Mercuri, Ludovica, Piccolo, Ilaria, Antonacci, Francesca, Munson, Katherine M., Lewis, Alexandra P., Baker, Carl, Underwood, Jason G., Hoekzema, Kendra, Huang, Tzu-Hsueh, Sorensen, Melanie, Walker, Jerilyn A., Hoffman, Jinna, Thibaud-Nissen, Françoise, Salama, Sofie R., Pang, Andy W. C., Lee, Joyce, Hastie, Alex R., Paten, Benedict, Batzer, Mark A., Diekhans, Mark, Ventura, Mario, and Eichler, Evan E.
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- 2021
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- View/download PDF
18. The structure, function and evolution of a complete human chromosome 8
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Logsdon, Glennis A., Vollger, Mitchell R., Hsieh, PingHsun, Mao, Yafei, Liskovykh, Mikhail A., Koren, Sergey, Nurk, Sergey, Mercuri, Ludovica, Dishuck, Philip C., Rhie, Arang, de Lima, Leonardo G., Dvorkina, Tatiana, Porubsky, David, Harvey, William T., Mikheenko, Alla, Bzikadze, Andrey V., Kremitzki, Milinn, Graves-Lindsay, Tina A., Jain, Chirag, Hoekzema, Kendra, Murali, Shwetha C., Munson, Katherine M., Baker, Carl, Sorensen, Melanie, Lewis, Alexandra M., Surti, Urvashi, Gerton, Jennifer L., Larionov, Vladimir, Ventura, Mario, Miga, Karen H., Phillippy, Adam M., and Eichler, Evan E.
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- 2021
- Full Text
- View/download PDF
19. Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
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Nuttle, Xander, Giannuzzi, Giuliana, Duyzend, Michael H, Schraiber, Joshua G, Narvaiza, Iñigo, Sudmant, Peter H, Penn, Osnat, Chiatante, Giorgia, Malig, Maika, Huddleston, John, Benner, Chris, Camponeschi, Francesca, Ciofi-Baffoni, Simone, Stessman, Holly AF, Marchetto, Maria CN, Denman, Laura, Harshman, Lana, Baker, Carl, Raja, Archana, Penewit, Kelsi, Janke, Nicolette, Tang, W Joyce, Ventura, Mario, Banci, Lucia, Antonacci, Francesca, Akey, Joshua M, Amemiya, Chris T, Gage, Fred H, Reymond, Alexandre, and Eichler, Evan E
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Chromosomes ,Human ,Pair 16 ,Animals ,Humans ,Pan troglodytes ,Chromosome Breakage ,Genetic Predisposition to Disease ,Iron ,Proteins ,Autistic Disorder ,Evolution ,Molecular ,Species Specificity ,Gene Duplication ,Recombination ,Genetic ,Homeostasis ,Time Factors ,DNA Copy Number Variations ,Pongo ,Human Genome ,Genetics ,Biotechnology ,General Science & Technology - Abstract
Genetic differences that specify unique aspects of human evolution have typically been identified by comparative analyses between the genomes of humans and closely related primates, including more recently the genomes of archaic hominins. Not all regions of the genome, however, are equally amenable to such study. Recurrent copy number variation (CNV) at chromosome 16p11.2 accounts for approximately 1% of cases of autism and is mediated by a complex set of segmental duplications, many of which arose recently during human evolution. Here we reconstruct the evolutionary history of the locus and identify bolA family member 2 (BOLA2) as a gene duplicated exclusively in Homo sapiens. We estimate that a 95-kilobase-pair segment containing BOLA2 duplicated across the critical region approximately 282 thousand years ago (ka), one of the latest among a series of genomic changes that dramatically restructured the locus during hominid evolution. All humans examined carried one or more copies of the duplication, which nearly fixed early in the human lineage--a pattern unlikely to have arisen so rapidly in the absence of selection (P
- Published
- 2016
20. Long-read sequence assembly of the gorilla genome
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Gordon, David, Huddleston, John, Chaisson, Mark JP, Hill, Christopher M, Kronenberg, Zev N, Munson, Katherine M, Malig, Maika, Raja, Archana, Fiddes, Ian, Hillier, LaDeana W, Dunn, Christopher, Baker, Carl, Armstrong, Joel, Diekhans, Mark, Paten, Benedict, Shendure, Jay, Wilson, Richard K, Haussler, David, Chin, Chen-Shan, and Eichler, Evan E
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Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Human Genome ,Biotechnology ,Generic health relevance ,Animals ,Contig Mapping ,Evolution ,Molecular ,Expressed Sequence Tags ,Female ,Genetic Variation ,Genome ,Human ,Genomics ,Gorilla gorilla ,Humans ,Sequence Alignment ,Sequence Analysis ,DNA ,General Science & Technology - Abstract
Accurate sequence and assembly of genomes is a critical first step for studies of genetic variation. We generated a high-quality assembly of the gorilla genome using single-molecule, real-time sequence technology and a string graph de novo assembly algorithm. The new assembly improves contiguity by two to three orders of magnitude with respect to previously released assemblies, recovering 87% of missing reference exons and incomplete gene models. Although regions of large, high-identity segmental duplications remain largely unresolved, this comprehensive assembly provides new biological insight into genetic diversity, structural variation, gene loss, and representation of repeat structures within the gorilla genome. The approach provides a path forward for the routine assembly of mammalian genomes at a level approaching that of the current quality of the human genome.
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- 2016
21. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
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Turner, Tychele N, Hormozdiari, Fereydoun, Duyzend, Michael H, McClymont, Sarah A, Hook, Paul W, Iossifov, Ivan, Raja, Archana, Baker, Carl, Hoekzema, Kendra, Stessman, Holly A, Zody, Michael C, Nelson, Bradley J, Huddleston, John, Sandstrom, Richard, Smith, Joshua D, Hanna, David, Swanson, James M, Faustman, Elaine M, Bamshad, Michael J, Stamatoyannopoulos, John, Nickerson, Deborah A, McCallion, Andrew S, Darnell, Robert, and Eichler, Evan E
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Biological Sciences ,Bioinformatics and Computational Biology ,Biomedical and Clinical Sciences ,Genetics ,Autism ,Mental Health ,Intellectual and Developmental Disabilities (IDD) ,Biotechnology ,Human Genome ,Pediatric ,Brain Disorders ,2.1 Biological and endogenous factors ,Aetiology ,Autistic Disorder ,DNA ,Exome ,Female ,Genome ,Human ,Humans ,Male ,Pedigree ,Polymorphism ,Single Nucleotide ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected by simplex autism. For the majority of these families, no copy-number variant (CNV) or candidate de novo gene-disruptive single-nucleotide variant (SNV) had been detected by microarray or whole-exome sequencing (WES). We integrated multiple CNV and SNV analyses and extensive experimental validation to identify additional candidate mutations in eight families. We report that compared to control individuals, probands showed a significant (p = 0.03) enrichment of de novo and private disruptive mutations within fetal CNS DNase I hypersensitive sites (i.e., putative regulatory regions). This effect was only observed within 50 kb of genes that have been previously associated with autism risk, including genes where dosage sensitivity has already been established by recurrent disruptive de novo protein-coding mutations (ARID1B, SCN2A, NR3C2, PRKCA, and DSCAM). In addition, we provide evidence of gene-disruptive CNVs (in DISC1, WNT7A, RBFOX1, and MBD5), as well as smaller de novo CNVs and exon-specific SNVs missed by exome sequencing in neurodevelopmental genes (e.g., CANX, SAE1, and PIK3CA). Our results suggest that the detection of smaller, often multiple CNVs affecting putative regulatory elements might help explain additional risk of simplex autism.
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- 2016
22. Faricimab Treat-and-Extend for Diabetic Macular Edema
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Wong, Tien Y., primary, Haskova, Zdenka, additional, Asik, Kemal, additional, Baumal, Caroline R., additional, Csaky, Karl G., additional, Eter, Nicole, additional, Ives, Jane A., additional, Jaffe, Glenn J., additional, Korobelnik, Jean-François, additional, Lin, Hugh, additional, Murata, Toshinori, additional, Ruamviboonsuk, Paisan, additional, Schlottmann, Patricio G., additional, Seres, András I., additional, Silverman, David, additional, Sun, Xiaodong, additional, Tang, Yannan, additional, Wells, John A., additional, Yoon, Young Hee, additional, Wykoff, Charles C., additional, Aaberg, Thomas, additional, Abbey, Ashkan, additional, Abdulaeva, Elmira, additional, Abengoechea, Santiago, additional, Abraham, Prema, additional, Ach, Thomas, additional, Adams, Serrhel, additional, Adan Civera, Alfredo, additional, Adrean, Sean, additional, Agostini, Hansjurgen, additional, Alam, Suhail, additional, Alezzandrini, Arturo, additional, Alfaro, Virgil, additional, Aliseda, Daniel, additional, Almony, Arghavan, additional, Amat, Pedro, additional, Amini, Payam, additional, Antoszyk, Andrew, additional, Arias, Luis, additional, Asaria, Riaz, additional, Avila, Marcos, additional, Awh, Carl C., additional, Bafalluy, Joaquin, additional, Baker, Carl, additional, Bandello, Francesco, additional, Barakat, Mark, additional, Barraza, Karen, additional, Bator, Gyorgy, additional, Baumal, Caroline, additional, Belfort, Rubens, additional, Bergstrom, Chris, additional, Bertolucci, George, additional, Bochow, Thomas, additional, Bolz, Matthias, additional, Borcz, Emilia, additional, Bordon, Arnaldo, additional, Boyer, David, additional, Bratko, Galina, additional, Brent, Michael, additional, Brown, Jamin, additional, Brown, David M., additional, Budzinskaya, Maria, additional, Buffet, Sylvia, additional, Burgess, Stuart, additional, Burton, Ben, additional, Busquets, Miguel, additional, Cabrera, Francisco, additional, Cagini, Carlo, additional, Calzada, Jorge, additional, Campochiaro, Peter, additional, Carlson, John, additional, Castellarin, Alessandro, additional, Cava, Carlos, additional, Chaikitmongkol, Voraporn, additional, Chan, Clement, additional, Chang, Emmanuel, additional, Chang, Jonathan, additional, Chang, Andrew, additional, Charles, Steve, additional, Chaudhry, Nauman, additional, Chee, Caroline, additional, Chen, Judy, additional, Chen, Fred, additional, Chen, Shih-Jen, additional, Cheong-Leen, Richard, additional, Chiang, Allen, additional, Chittum, Mark, additional, Chow, David, additional, Connolly, Brian, additional, Cornut, Pierre Loic, additional, Csaky, Karl, additional, Danzig, Carl, additional, Das, Arup, additional, Daskalov, Vesselin, additional, Desco, Carmen, additional, Dessouki, Amr, additional, Dickinson, John, additional, Do, Brian, additional, Dollin, Michael, additional, Dugel, Pravin, additional, Dusova, Jaroslava, additional, Eichenbaum, David, additional, Eldem, Bora, additional, Engstrom, Robert, additional, Ernest, Jan, additional, Escobar, Joan Josep, additional, Esposti, Simona, additional, Falk, Naomi, additional, Farkas, Andrej, additional, Feiner, Leonard, additional, Feltgen, Nicolas, additional, Fernandez, Carlos, additional, Fernandez Vega, Alvaro, additional, Ferrone, Philip, additional, Figueira, Joao, additional, Figueroa, Marta, additional, Findl, Oliver, additional, Fine, Howard, additional, Fortun, Jorge, additional, Fox, Gregory M., additional, Foxman, Scott, additional, Framme, Carsten, additional, Fraser-Bell, Samantha, additional, Fu, Arthur, additional, Fukutomi, Akira, additional, Fung, Nicholas, additional, Furno Sola, Federico, additional, Gallego-Pinazo, Roberto, additional, Garcia, Renata, additional, Garcia-Layana, Alfredo, additional, Gawecki, Maciej, additional, George, Sheen, additional, Ghanchi, Faruque, additional, Ghorayeb, Ghassan, additional, Goldberg, Roger, additional, Goldstein, Michaella, additional, Gomes, Nuno, additional, Ulla, Francisco Gomez, additional, Gonzalez, Victor, additional, Greven, Craig, additional, Gupta, Sunil, additional, Guzman, Miguel, additional, Harris, Martin, additional, Hatz, Katja, additional, Hau, Vivienne, additional, Hau, Vincent, additional, Hayashi, Ken, additional, Heier, Jeffrey, additional, Herba, Ewa, additional, Hershberger, Vrinda, additional, Higgins, Patrick, additional, Hirakata, Akito, additional, Ho, Allen, additional, Holekamp, Nancy, additional, Honda, Shigeru, additional, Hsu, Jason, additional, Hu, Allen, additional, Hurcikova, Maria, additional, Ikeda, Yasuhiro, additional, Isernhagen, Ricky, additional, Ito, Yasuki, additional, Jackson, Tim, additional, Jacoby, Rachael, additional, Jafree, Afsar, additional, Javey, Golnaz, additional, Javid, Cameron, additional, Jhaveri, Chirag, additional, Johnson, Mark, additional, Kacerík, Marek, additional, Kaluzny, Jakub, additional, Kampik, Daniel, additional, Kang, Se Woong, additional, Kapoor, Kapil, additional, Karabas, Levent, additional, Kawasaki, Tsutomu, additional, Kerenyi, Agnes, additional, Khanani, Arshad, additional, Khurana, Rahul, additional, Kim, Brian, additional, Kimura, Kazuhiro, additional, Kishino, Genichiro, additional, Kitano, Shigehiko, additional, Klein-Mascia, Kendra, additional, Kokame, Gregg, additional, Korobelnik, Jean Francois, additional, Kulikov, Alexey, additional, Kuriyan, Ajay, additional, Kwong, Henry, additional, Kwun, Robert, additional, Lai, Timothy, additional, Lai, Chi-Chun, additional, Laird, Philip, additional, Lalonde, Laurent, additional, Lanzetta, Paolo, additional, Larsen, Michael, additional, Laugesen, Caroline, additional, Lavinsky, Daniel, additional, Lebreton, Olivier, additional, Lee, Seong, additional, Levy, Jaime, additional, Lipkova, Blandina, additional, Liu, Mimi, additional, Liu, Judy, additional, Lohmann, Chris P., additional, London, Nikolas, additional, Lorenz, Katrin, additional, Lotery, Andrew, additional, Lozano Rechy, David, additional, Lujan, Silvio, additional, Ma, Patrick, additional, Maeno, Takatoshi, additional, Mahmood, Sajjad, additional, Makkouk, Fuad, additional, Malik, Khurram, additional, Marcus, Dennis, additional, Margherio, Alan, additional, Mastropasqua, Leonardo, additional, Maturi, Raj, additional, McCabe, Frank, additional, McKibbin, Martin, additional, Mehta, Hemal, additional, Menon, Geeta, additional, Mentes, Jale, additional, Michalska-Malecka, Katarzyna, additional, Misheva, Aneta, additional, Mitamura, Yoshinori, additional, Mitchell, Paul, additional, Modi, Yasha, additional, Mohamed, Quresh, additional, Montero, Javier, additional, Moore, Jeffrey, additional, Morales Canton, Virgilio, additional, Morori-Katz, Haia, additional, Morugova, Tatiana, additional, Murakami, Tomoaki, additional, Muzyka-Wozniak, Maria, additional, Nardi, Marco, additional, Nemcansky, Jan, additional, Nester-Ostrowska, Kamila, additional, Neto, Julio, additional, Newell, Charles, additional, Nicolo, Massimo, additional, Nielsen, Jared, additional, Noda, Kousuke, additional, Obana, Akira, additional, Ogata, Nahoko, additional, Oh, Hideyasu, additional, Oh, Kean, additional, Ohr, Matthew, additional, Oleksy, Piotr, additional, Oliver, Scott, additional, Olivier, Sebastien, additional, Osher, James, additional, Ozcalışkan, Sehnaz, additional, Ozturk, Banu, additional, Papp, Andras, additional, Park, Kyu Hyung, additional, Parke, D. Wilkin, additional, Parravano, Maria Cristina, additional, Patel, Sugat, additional, Patel, Sunil, additional, Pearce, Ian, additional, Pearlman, Joel, additional, Penha, Fernando, additional, Perente, Irfan, additional, Perkins, Stephen, additional, Pertile, Grazia, additional, Petkova, Iva, additional, Peto, Tunde, additional, Pieramici, Dante, additional, Pollreisz, Andreas, additional, Pongsachareonnont, Pear, additional, Pozdeyeva, Nadezhda, additional, Priglinger, Siegfried, additional, Qureshi, Jawad, additional, Raczynska, Dorota, additional, Rajagopalan, Rajesh, additional, Ramirez Estudillo, Juan, additional, Raskauskas, Paul, additional, Rathod, Rajiv, additional, Razavi, Hessam, additional, Regillo, Carl, additional, Ricci, Federico, additional, Rofagha, Soraya, additional, Romanczak, Dominika, additional, Romanowska-Dixon, Bożena, additional, Rosberger, Daniel, additional, Rosenblatt, Irit, additional, Rosenblatt, Brett, additional, Ross, Adam, additional, Ruiz Moreno, Jose Maria, additional, Salomão, Gustavo, additional, Sandhu, Sukhpal, additional, Sandner, Dirk, additional, Sararols, Laura, additional, Sawada, Osamu, additional, Schadlu, Ramin, additional, Schlottmann, Patricio, additional, Schuart, Claudia, additional, Seitz, Berthold, additional, Seres, András, additional, Sermet, Figen, additional, Shah, Sandeep, additional, Shah, Ankur, additional, Shah, Rohan, additional, Sharma, Sumit, additional, Sheidow, Thomas, additional, Sheth, Veeral, additional, Shimouchi, Akito, additional, Shimura, Masahiko, additional, Sikorski, Bartosz, additional, Silva, Rufino, additional, Singer, Michael, additional, Singerman, Lawrence, additional, Singh, Rishi, additional, Souied, Eric, additional, Spinak, David J., additional, Spital, Georg, additional, Steinle, Nathan, additional, Stern, Jeffrey, additional, Stoller, Glenn, additional, Stoltz, Robert, additional, Stone, Cameron, additional, Stone, Amy, additional, Suan, Eric, additional, Sugimoto, Masahiko, additional, Sugita, Iichiro, additional, Sun, Jennifer, additional, Suner, Ivan, additional, Szalczer, Lajos, additional, Szecsko, Timea, additional, Tabassian, Ali, additional, Tadayoni, Ramin, additional, Takagi, Hitoshi, additional, Takayama, Kei, additional, Taleb, Alexandre, additional, Talks, James, additional, Tan, Gavin, additional, Tanabe, Teruyo, additional, Taylor, Stanford, additional, Thach, Allen, additional, Thompson, John, additional, Tlucek, Paul, additional, Torti, Robert, additional, Tosheva Guneva, Daniela, additional, Toth-Molnar, Edit, additional, Uchiyama, Eduardo, additional, Vajas, Attila, additional, Varma, Deepali, additional, Varsanyi, Balazs, additional, Vassileva, Petja, additional, Vaz-Pereira, Sara, additional, Veith, Miroslav, additional, Vela, Jose Ignacio, additional, Viola, Francesco, additional, Virgili, Gianni, additional, Vogt, Gábor, additional, Vorum, Henrik, additional, Weber, Pamela, additional, Wecke, Thoalf, additional, Wee, Raymond, additional, Weger, Martin, additional, Weishaar, Paul, additional, Wickremasinghe, Sanjeewa, additional, Williams, Thomas Reginald, additional, Williams, Thomas, additional, Williams, Geoff, additional, Wolf, Armin, additional, Wolfe, Jeremy, additional, Wong, James, additional, Wong, David, additional, Wong, Ian, additional, Wong, Robert, additional, Wowra, Bogumil, additional, Wylęgała, Edward, additional, Yang, Chang-Hao, additional, Yasukawa, Tsutomu, additional, Yates, Paul, additional, Yilmaz, Gursel, additional, Yiu, Glenn, additional, Yoreh, Barak, additional, Yoshida, Shigeo, additional, Yu, Hyeong Gon, additional, Yu, Seung Young, additional, Yurieva, Tatiana, additional, Zacharias, Leandro, additional, Zaczek Zakrzewska, Karolina, additional, Zambrano, Alberto, additional, Zatorska, Barbara, additional, Zeolite, Carlos, additional, and Zheutlin, Jeffrey, additional
- Published
- 2023
- Full Text
- View/download PDF
23. Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans
- Author
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Hsieh, PingHsun, Dang, Vy, Vollger, Mitchell R., Mao, Yafei, Huang, Tzu-Hsueh, Dishuck, Philip C., Baker, Carl, Cantsilieris, Stuart, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Underwood, Jason G., and Eichler, Evan E.
- Published
- 2021
- Full Text
- View/download PDF
24. Global diversity, population stratification, and selection of human copy-number variation.
- Author
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Krumm, Niklas, Huddleston, John, Coe, Bradley, Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn, Posukh, Olga, Sahakyan, Hovhannes, Watkins, W, Yepiskoposyan, Levon, Abdullah, M, Bravi, Claudio, Capelli, Cristian, Hervig, Tor, Wee, Joseph, Tyler-Smith, Chris, van Driem, George, Romero, Irene, Jha, Aashish, Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena, Ayodo, George, Beall, Cynthia, Di Rienzo, Anna, Hammer, Michael, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah, Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, Eichler, Evan, Mallick, Swapan, Nelson, Bradley, Hormozdiari, Fereydoun, Henn, Brenna, and Sudmant, Peter
- Subjects
Animals ,Black People ,DNA Copy Number Variations ,Evolution ,Molecular ,Gene Duplication ,Genome ,Human ,Hominidae ,Humans ,Native Hawaiian or Other Pacific Islander ,Phylogeny ,Polymorphism ,Single Nucleotide ,Population ,Selection ,Genetic ,Sequence Deletion - Abstract
In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
- Published
- 2015
25. Global diversity, population stratification, and selection of human copy-number variation
- Author
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Sudmant, Peter H, Mallick, Swapan, Nelson, Bradley J, Hormozdiari, Fereydoun, Krumm, Niklas, Huddleston, John, Coe, Bradley P, Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn B, Posukh, Olga L, Sahakyan, Hovhannes, Watkins, W Scott, Yepiskoposyan, Levon, Abdullah, M Syafiq, Bravi, Claudio M, Capelli, Cristian, Hervig, Tor, Wee, Joseph TS, Tyler-Smith, Chris, van Driem, George, Romero, Irene Gallego, Jha, Aashish R, Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Henn, Brenna, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena B, Ayodo, George, Beall, Cynthia M, Di Rienzo, Anna, Hammer, Michael F, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah A, Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, and Eichler, Evan E
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Genetics ,Human Genome ,Animals ,Black People ,DNA Copy Number Variations ,Evolution ,Molecular ,Gene Duplication ,Genome ,Human ,Hominidae ,Humans ,Native Hawaiian or Other Pacific Islander ,Phylogeny ,Polymorphism ,Single Nucleotide ,Population ,Selection ,Genetic ,Sequence Deletion ,General Science & Technology - Abstract
In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
- Published
- 2015
26. Extreme selective sweeps independently targeted the X chromosomes of the great apes
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Nam, Kiwoong, Munch, Kasper, Hobolth, Asger, Dutheil, Julien Yann, Veeramah, Krishna R, Woerner, August E, Hammer, Michael F, Mailund, Thomas, Schierup, Mikkel Heide, Prado-Martinez, Javier, Sudmant, Peter H, Kidd, Jeffrey M, Li, Heng, Kelley, Joanna L, Lorente-Galdos, Belen, O’Connor, Timothy D, Santpere, Gabriel, Cagan, Alexander, Theunert, Christoph, Casals, Ferran, Laayouni, Hafid, Halager, Anders E, Malig, Maika, Hernandez-Rodriguez, Jessica, Hernando-Herraez, Irene, Prüfer, Kay, Pybus, Marc, Johnstone, Laurel, Lachmann, Michael, Alkan, Can, Twigg, Dorina, Petit, Natalia, Baker, Carl, Hormozdiari, Fereydoun, Fernandez-Callejo, Marcos, Dabad, Marc, Wilson, Michael L, Stevison, Laurie, Camprubí, Cristina, Carvalho, Tiago, Ruiz-Herrera, Aurora, Vives, Laura, Mele, Marta, Abello, Teresa, Kondova, Ivanela, Bontrop, Ronald E, Pusey, Anne, Lankester, Felix, Kiyang, John A, Bergl, Richard A, Lonsdorf, Elizabeth, Myers, Simon, Ventura, Mario, Gagneux, Pascal, Comas, David, Siegismund, Hans, Blanc, Julie, Agueda-Calpena, Lidia, Gut, Marta, Fulton, Lucinda, Tishkoff, Sarah A, Mullikin, James C, Wilson, Richard K, Gut, Ivo G, Gonder, Mary Katherine, Ryder, Oliver A, Hahn, Beatrice H, Navarro, Arcadi, Akey, Joshua M, Bertranpetit, Jaume, Reich, David, Schierup, Mikkel H, Hvilsom, Christina, Andrés, Aida M, Wall, Jeffrey D, Bustamante, Carlos D, Eichler, Evan E, and Marques-Bonet, Tomas
- Subjects
Human Genome ,Genetics ,Animals ,Computational Biology ,Databases ,Genetic ,Genetic Variation ,Genetics ,Population ,Hominidae ,Models ,Genetic ,Polymorphism ,Genetic ,Selection ,Genetic ,Species Specificity ,X Chromosome ,Great Ape Genome Diversity Project ,X-chromosome evolution ,ampliconic genes ,great apes ,meiotic drive ,selective sweeps - Abstract
The unique inheritance pattern of the X chromosome exposes it to natural selection in a way that is different from that of the autosomes, potentially resulting in accelerated evolution. We perform a comparative analysis of X chromosome polymorphism in 10 great ape species, including humans. In most species, we identify striking megabase-wide regions, where nucleotide diversity is less than 20% of the chromosomal average. Such regions are found exclusively on the X chromosome. The regions overlap partially among species, suggesting that the underlying targets are partly shared among species. The regions have higher proportions of singleton SNPs, higher levels of population differentiation, and a higher nonsynonymous-to-synonymous substitution ratio than the rest of the X chromosome. We show that the extent to which diversity is reduced is incompatible with direct selection or the action of background selection and soft selective sweeps alone, and therefore, we suggest that very strong selective sweeps have independently targeted these specific regions in several species. The only genomic feature that we can identify as strongly associated with loss of diversity is the location of testis-expressed ampliconic genes, which also have reduced diversity around them. We hypothesize that these genes may be responsible for selective sweeps in the form of meiotic drive caused by an intragenomic conflict in male meiosis.
- Published
- 2015
27. Pangenome graph construction from genome alignments with Minigraph-Cactus.
- Author
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Hickey, Glenn, Monlong, Jean, Ebler, Jana, Novak, Adam M., Eizenga, Jordan M., Gao, Yan, Abel, Haley J., Antonacci-Fulton, Lucinda L., Asri, Mobin, Baid, Gunjan, Baker, Carl A., Belyaeva, Anastasiya, Billis, Konstantinos, Bourque, Guillaume, Buonaiuto, Silvia, Carroll, Andrew, Chaisson, Mark J. P., Chang, Pi-Chuan, Chang, Xian H., and Cheng, Haoyu
- Abstract
Pangenome references address biases of reference genomes by storing a representative set of diverse haplotypes and their alignment, usually as a graph. Alternate alleles determined by variant callers can be used to construct pangenome graphs, but advances in long-read sequencing are leading to widely available, high-quality phased assemblies. Constructing a pangenome graph directly from assemblies, as opposed to variant calls, leverages the graph's ability to represent variation at different scales. Here we present the Minigraph-Cactus pangenome pipeline, which creates pangenomes directly from whole-genome alignments, and demonstrate its ability to scale to 90 human haplotypes from the Human Pangenome Reference Consortium. The method builds graphs containing all forms of genetic variation while allowing use of current mapping and genotyping tools. We measure the effect of the quality and completeness of reference genomes used for analysis within the pangenomes and show that using the CHM13 reference from the Telomere-to-Telomere Consortium improves the accuracy of our methods. We also demonstrate construction of a Drosophila melanogaster pangenome. Constructing genome graphs directly from genome assemblies overcomes single-reference bias. [ABSTRACT FROM AUTHOR]
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- 2024
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- View/download PDF
28. Long-Term Control of Retinal Thickness Variability and Vision Following the 0.19 mg Fluocinolone Acetonide Implant
- Author
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Sheth, Veeral S., primary, Singer, Michael, additional, MacCumber, Mathew, additional, Cutino, Antonio, additional, Kasper, Jonathan, additional, Coughlin, Brandon A., additional, Riemann, Christopher D., additional, Abdelsalam, Ahmed, additional, Shakoor, Akbar, additional, Moshiri, Ala, additional, Barkmeier, Andrew, additional, Tewari, Asheesh, additional, Baker, Carl, additional, Kiernan, Daniel, additional, Rosberger, Daniel, additional, Roth, Daniel, additional, Eichenbaum, David, additional, Malik, Deepika, additional, Marcus, Dennis, additional, Dehning, Doug, additional, Reichel, Elias, additional, Tilton, Elisha, additional, Fu, Evelyn, additional, Kokame, Gregg, additional, Salehi-Had, Hani, additional, Bhatt, Harit, additional, Nielsen, Jared, additional, Prensky, Jay, additional, Lim, Jennifer, additional, Adleberg, Jon, additional, Beck, Joseph, additional, Gunn, Joseph, additional, Podhorzer, Joseph, additional, Small, Kent, additional, Kooragayala, Lakshmana, additional, Freisberg, Lars, additional, Schocket, Lisa, additional, Berrocal, Maria, additional, Worrall, Martin, additional, Cassell, Michael, additional, Tsipursky, Michael, additional, Holekamp, Nancy, additional, Weber, Pamela, additional, Merrill, Pauline, additional, Campochiaro, Peter, additional, Dugel, Pravin, additional, Khurana, Rahul, additional, Apte, Rajendra, additional, Rathod, Rajiv, additional, Katz, Randy, additional, Chace, Richard, additional, Kwun, Robert, additional, Grigorian, Ruben, additional, Mansour, Sam, additional, Chexal, Saradha, additional, Madreperla, Steven, additional, Gonzalez, Victor, additional, and Aldred, William, additional
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- 2023
- Full Text
- View/download PDF
29. Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H ( CFH ) gene family
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Cantsilieris, Stuart, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Penewit, Kelsi, Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Dang, Vy, Grassmann, Felix, Richardson, Andrea J., Guymer, Robyn H., Graves-Lindsay, Tina A., Wilson, Richard K., Weber, Bernhard H. F., Baird, Paul N., Allikmets, Rando, and Eichler, Evan E.
- Published
- 2018
30. Disagreement and semantic relativity : the case of aesthetic discourse
- Author
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Baker, Carl Edward
- Subjects
100 - Abstract
In this work I aim to explore the role of disagreement (a) in recent semantic debates between aesthetic relativism and its rivals, and Cb) in semantic theory more generally. I argue that faultless disagreement does not, as some have argued, push us towards aesthetic relativism-and that while relativists in fact have trouble accounting for some aspects of the faultlessness data, aesthetic absolutists can develop a theory which accounts for this data. I argue while arguments from disagreement against contextualism and .relativism fail to rule out those positions, they do show (a) that contextualists and relativists require controversial assumptions to make sense of widespread aesthetic disagreement and Cb) that the best relativist account of disagreement and the best relativist account of faultlessness are in tension with one another. I argue that the project of giving arguments from disagreement to adjudicate between semantic theories is in good standing. I propose a distinction between two kinds of definition of disagreement which explains the role of disagreement in semantic theory. Finally, I develop a general account of disagreement-in terms of the concept of incompatibility-which can fill this role.
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- 2012
31. Rates and patterns of great ape retrotransposition
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Hormozdiari, Fereydoun, Konkel, Miriam K, Prado-Martinez, Javier, Chiatante, Giorgia, Herraez, Irene Hernando, Walker, Jerilyn A, Nelson, Benjamin, Alkan, Can, Sudmant, Peter H, Huddleston, John, Catacchio, Claudia R, Ko, Arthur, Malig, Maika, Baker, Carl, Project, Great Ape Genome, Marques-Bonet, Tomas, Ventura, Mario, Batzer, Mark A, and Eichler, Evan E
- Subjects
Genetics ,Human Genome ,Alu Elements ,Animals ,Cluster Analysis ,DNA Primers ,Genetic Variation ,Genome ,Genomics ,Hominidae ,Humans ,Likelihood Functions ,Long Interspersed Nucleotide Elements ,Phylogeny ,Polymerase Chain Reaction ,Polymorphism ,Single Nucleotide ,Principal Component Analysis ,Species Specificity ,genomics ,genetic diversity ,structural variation ,retrotransposon ,Great Ape Genome Project - Abstract
We analyzed 83 fully sequenced great ape genomes for mobile element insertions, predicting a total of 49,452 fixed and polymorphic Alu and long interspersed element 1 (L1) insertions not present in the human reference assembly and assigning each retrotransposition event to a different time point during great ape evolution. We used these homoplasy-free markers to construct a mobile element insertions-based phylogeny of humans and great apes and demonstrate their differential power to discern ape subspecies and populations. Within this context, we find a good correlation between L1 diversity and single-nucleotide polymorphism heterozygosity (r(2) = 0.65) in contrast to Alu repeats, which show little correlation (r(2) = 0.07). We estimate that the "rate" of Alu retrotransposition has differed by a factor of 15-fold in these lineages. Humans, chimpanzees, and bonobos show the highest rates of Alu accumulation--the latter two since divergence 1.5 Mya. The L1 insertion rate, in contrast, has remained relatively constant, with rates differing by less than a factor of three. We conclude that Alu retrotransposition has been the most variable form of genetic variation during recent human-great ape evolution, with increases and decreases occurring over very short periods of evolutionary time.
- Published
- 2013
32. Global increases in both common and rare copy number load associated with autism
- Author
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Girirajan, Santhosh, Johnson, Rebecca L, Tassone, Flora, Balciuniene, Jorune, Katiyar, Neerja, Fox, Keolu, Baker, Carl, Srikanth, Abhinaya, Yeoh, Kian Hui, Khoo, Su Jen, Nauth, Therese B, Hansen, Robin, Ritchie, Marylyn, Hertz-Picciotto, Irva, Eichler, Evan E, Pessah, Isaac N, and Selleck, Scott B
- Subjects
Biological Sciences ,Genetics ,Intellectual and Developmental Disabilities (IDD) ,Pediatric ,Clinical Research ,Mental Health ,Brain Disorders ,Autism ,Human Genome ,Behavioral and Social Science ,Autistic Disorder ,Case-Control Studies ,Child ,Child ,Preschool ,DNA Copy Number Variations ,Female ,Humans ,Male ,Oligonucleotide Array Sequence Analysis ,Segmental Duplications ,Genomic ,Sequence Deletion ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been documented. We examined CNV data from 516 individuals with autism or typical development from the population-based Childhood Autism Risks from Genetics and Environment (CHARGE) study. We interrogated 120 regions flanked by segmental duplications (genomic hotspots) for events >50 kbp and the entire genomic backbone for variants >300 kbp using a custom targeted DNA microarray. This analysis was complemented by a separate study of five highly dynamic hotspots associated with autism or developmental delay syndromes, using a finely tiled array platform (>1 kbp) in 142 children matched for gender and ethnicity. In both studies, a significant increase in the number of base pairs of duplication, but not deletion, was associated with autism. Significantly elevated levels of CNV load remained after the removal of rare and likely pathogenic events. Further, the entire CNV load detected with the finely tiled array was contributed by common variants. The impact of this variation was assessed by examining the correlation of clinical outcomes with CNV load. The level of personal and social skills, measured by Vineland Adaptive Behavior Scales, negatively correlated (Spearman's r = -0.13, P = 0.034) with the duplication CNV load for the affected children; the strongest association was found for communication (P = 0.048) and socialization (P = 0.022) scores. We propose that CNV load, predominantly increased genomic base pairs of duplication, predisposes to autism.
- Published
- 2013
33. Great ape genetic diversity and population history.
- Author
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Prado-Martinez, Javier, Sudmant, Peter H, Kidd, Jeffrey M, Li, Heng, Kelley, Joanna L, Lorente-Galdos, Belen, Veeramah, Krishna R, Woerner, August E, O'Connor, Timothy D, Santpere, Gabriel, Cagan, Alexander, Theunert, Christoph, Casals, Ferran, Laayouni, Hafid, Munch, Kasper, Hobolth, Asger, Halager, Anders E, Malig, Maika, Hernandez-Rodriguez, Jessica, Hernando-Herraez, Irene, Prüfer, Kay, Pybus, Marc, Johnstone, Laurel, Lachmann, Michael, Alkan, Can, Twigg, Dorina, Petit, Natalia, Baker, Carl, Hormozdiari, Fereydoun, Fernandez-Callejo, Marcos, Dabad, Marc, Wilson, Michael L, Stevison, Laurie, Camprubí, Cristina, Carvalho, Tiago, Ruiz-Herrera, Aurora, Vives, Laura, Mele, Marta, Abello, Teresa, Kondova, Ivanela, Bontrop, Ronald E, Pusey, Anne, Lankester, Felix, Kiyang, John A, Bergl, Richard A, Lonsdorf, Elizabeth, Myers, Simon, Ventura, Mario, Gagneux, Pascal, Comas, David, Siegismund, Hans, Blanc, Julie, Agueda-Calpena, Lidia, Gut, Marta, Fulton, Lucinda, Tishkoff, Sarah A, Mullikin, James C, Wilson, Richard K, Gut, Ivo G, Gonder, Mary Katherine, Ryder, Oliver A, Hahn, Beatrice H, Navarro, Arcadi, Akey, Joshua M, Bertranpetit, Jaume, Reich, David, Mailund, Thomas, Schierup, Mikkel H, Hvilsom, Christina, Andrés, Aida M, Wall, Jeffrey D, Bustamante, Carlos D, Hammer, Michael F, Eichler, Evan E, and Marques-Bonet, Tomas
- Subjects
Animals ,Animals ,Wild ,Animals ,Zoo ,Hominidae ,Gorilla gorilla ,Humans ,Pan paniscus ,Pan troglodytes ,Inbreeding ,Genetics ,Population ,Population Density ,Evolution ,Molecular ,Phylogeny ,Polymorphism ,Single Nucleotide ,Genome ,Africa ,Asia ,Southeastern ,Gene Flow ,Genetic Variation ,General Science & Technology - Abstract
Most great ape genetic variation remains uncharacterized; however, its study is critical for understanding population history, recombination, selection and susceptibility to disease. Here we sequence to high coverage a total of 79 wild- and captive-born individuals representing all six great ape species and seven subspecies and report 88.8 million single nucleotide polymorphisms. Our analysis provides support for genetically distinct populations within each species, signals of gene flow, and the split of common chimpanzees into two distinct groups: Nigeria-Cameroon/western and central/eastern populations. We find extensive inbreeding in almost all wild populations, with eastern gorillas being the most extreme. Inferred effective population sizes have varied radically over time in different lineages and this appears to have a profound effect on the genetic diversity at, or close to, genes in almost all species. We discover and assign 1,982 loss-of-function variants throughout the human and great ape lineages, determining that the rate of gene loss has not been different in the human branch compared to other internal branches in the great ape phylogeny. This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.
- Published
- 2013
34. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
- Author
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Guo, Hui, Duyzend, Michael H., Coe, Bradley P., Baker, Carl, Hoekzema, Kendra, Gerdts, Jennifer, Turner, Tychele N., Zody, Michael C., Beighley, Jennifer S., Murali, Shwetha C., Nelson, Bradley J., University of Washington Center for Mendelian Genomics, Bamshad, Michael J., Nickerson, Deborah A., Bernier, Raphael A., and Eichler, Evan E.
- Published
- 2019
- Full Text
- View/download PDF
35. A Review of the Detroit Tests of Learning Aptitude-3 (DLTA-3).
- Author
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Baker, Carl E. and Baker, Carl E.
- Abstract
The Detroit Tests of Learning Aptitude, 3rd Edition (DLTA-3) is a battery of 11 subtests that measure different but interrelated mental abilities. These are clinically assessed by the battery, which further attempts to delineate the factors that contribute to Spearman's factor for general intelligence. The DLTA-3 has age norms expressed for test takers ranging from 6 years, 11 months to 17 years, 11 months in terms of scaled score units. With respect to different target groups (Blacks, Whites, Hispanics) group information is provided only in the form of reliability coefficients. The DLTA-3 appears to be relatively unbiased with respect to reading measurement. Testing of verbal aptitude is tailored in terms of concepts most children would know. The analysis attempts to differentiate higher and lower levels of processing among students on several important theoretical dimensions of intellectual development. The motoric subtests have been revised since the DLTA-2, contributing to the fact that DLTA-3 is a good test for measuring intraindividual information processing differences because of its high internal consistency. (Contains 5 references.) (SLD)
- Published
- 1995
36. An evolutionary driver of interspersed segmental duplications in primates
- Author
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Cantsilieris, Stuart, Sunkin, Susan M., Johnson, Matthew E., Anaclerio, Fabio, Huddleston, John, Baker, Carl, Dougherty, Max L., Underwood, Jason G., Sulovari, Arvis, Hsieh, PingHsun, Mao, Yafei, Catacchio, Claudia Rita, Malig, Maika, Welch, AnneMarie E., Sorensen, Melanie, Munson, Katherine M., Jiang, Weihong, Girirajan, Santhosh, Ventura, Mario, Lamb, Bruce T., Conlon, Ronald A., and Eichler, Evan E.
- Published
- 2020
- Full Text
- View/download PDF
37. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- Author
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Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G, and Eichler, Evan E
- Subjects
Agricultural ,Veterinary and Food Sciences ,Biological Sciences ,Bioinformatics and Computational Biology ,Genetics ,Agricultural Biotechnology ,Neurosciences ,Brain Disorders ,Pediatric ,Aetiology ,2.1 Biological and endogenous factors ,Adult ,Case-Control Studies ,Child ,Child ,Preschool ,Chromosome Deletion ,Chromosomes ,Human ,Pair 16 ,Comparative Genomic Hybridization ,Developmental Disabilities ,Family ,Gene Frequency ,Humans ,Infant ,Models ,Genetic ,Oligonucleotide Array Sequence Analysis ,Pedigree ,Phenotype ,Polymorphism ,Single Nucleotide ,Recurrence ,Severity of Illness Index ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls (P = 0.028, OR = 2.5). Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents (P = 0.037, OR = 6). Probands were more likely to carry an additional large copy-number variant when compared to matched controls (10 of 42 cases, P = 5.7 x 10(-5), OR = 6.6). The clinical features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease.
- Published
- 2010
38. Establishment of Papillomavirus Infection Is Enhanced by Promyelocytic Leukemia Protein (PML) Expression
- Author
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Day, Patricia M., Baker, Carl C., Lowy, Douglas R., Schiller, John T., and Berns, Kenneth I.
- Published
- 2004
39. Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome
- Author
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Lee, HoJoon, primary, Greer, Stephanie U., additional, Pavlichin, Dmitri S., additional, Zhou, Bo, additional, Urban, Alexander E., additional, Weissman, Tsachy, additional, Ji, Hanlee P., additional, Liao, Wen-Wei, additional, Asri, Mobin, additional, Ebler, Jana, additional, Doerr, Daniel, additional, Haukness, Marina, additional, Hickey, Glenn, additional, Lu, Shuangjia, additional, Lucas, Julian K., additional, Monlong, Jean, additional, Abel, Haley J., additional, Buonaiuto, Silvia, additional, Chang, Xian H., additional, Cheng, Haoyu, additional, Chu, Justin, additional, Colonna, Vincenza, additional, Eizenga, Jordan M., additional, Feng, Xiaowen, additional, Fischer, Christian, additional, Fulton, Robert S., additional, Garg, Shilpa, additional, Groza, Cristian, additional, Guarracino, Andrea, additional, Harvey, William T., additional, Heumos, Simon, additional, Howe, Kerstin, additional, Jain, Miten, additional, Lu, Tsung-Yu, additional, Markello, Charles, additional, Martin, Fergal J., additional, Mitchell, Matthew W., additional, Munson, Katherine M., additional, Mwaniki, Moses Njagi, additional, Novak, Adam M., additional, Olsen, Hugh E., additional, Pesout, Trevor, additional, Porubsky, David, additional, Prins, Pjotr, additional, Sibbesen, Jonas A., additional, Tomlinson, Chad, additional, Villani, Flavia, additional, Vollger, Mitchell R., additional, Antonacci-Fulton, Lucinda L., additional, Baid, Gunjan, additional, Baker, Carl A., additional, Belyaeva, Anastasiya, additional, Billis, Konstantinos, additional, Carroll, Andrew, additional, Chang, Pi-Chuan, additional, Cody, Sarah, additional, Cook, Daniel E., additional, Cornejo, Omar E., additional, Diekhans, Mark, additional, Ebert, Peter, additional, Fairley, Susan, additional, Fedrigo, Olivier, additional, Felsenfeld, Adam L., additional, Formenti, Giulio, additional, Frankish, Adam, additional, Gao, Yan, additional, Giron, Carlos Garcia, additional, Green, Richard E., additional, Haggerty, Leanne, additional, Hoekzema, Kendra, additional, Hourlier, Thibaut, additional, Kolesnikov, Alexey, additional, Korbel, Jan O., additional, Kordosky, Jennifer, additional, Lee, HoJoon, additional, Lewis, Alexandra P., additional, Magalhães, Hugo, additional, Marco-Sola, Santiago, additional, Marijon, Pierre, additional, McDaniel, Jennifer, additional, Mountcastle, Jacquelyn, additional, Nattestad, Maria, additional, Olson, Nathan D., additional, Puiu, Daniela, additional, Regier, Allison A., additional, Rhie, Arang, additional, Sacco, Samuel, additional, Sanders, Ashley D., additional, Schneider, Valerie A., additional, Schultz, Baergen I., additional, Shafin, Kishwar, additional, Sirén, Jouni, additional, Smith, Michael W., additional, Sofia, Heidi J., additional, Abou Tayoun, Ahmad N., additional, Thibaud-Nissen, Françoise, additional, Tricomi, Francesca Floriana, additional, Wagner, Justin, additional, Wood, Jonathan M.D., additional, Zimin, Aleksey V., additional, Popejoy, Alice B., additional, Bourque, Guillaume, additional, Chaisson, Mark J.P., additional, Flicek, Paul, additional, Phillippy, Adam M., additional, Zook, Justin M., additional, Eichler, Evan E., additional, Haussler, David, additional, Jarvis, Erich D., additional, Miga, Karen H., additional, Wang, Ting, additional, Garrison, Erik, additional, Marschall, Tobias, additional, Hall, Ira, additional, Li, Heng, additional, and Paten, Benedict, additional
- Published
- 2023
- Full Text
- View/download PDF
40. 0.19-mg fluocinolone acetonide intravitreal implant for diabetic macular edema: intraocular pressure-related effects over 36 months
- Author
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Roth, Daniel B., primary, Eichenbaum, David, additional, Malik, Deepika, additional, Radcliffe, Nathan M., additional, Cutino, Antonio, additional, Small, Kent W., additional, Abdelsalam, Ahmed, additional, Shakoor, Akbar, additional, Moshiri, Ala, additional, Barkmeier, Andrew, additional, Tewari, Asheesh, additional, Baker, Carl, additional, Kiernan, Daniel, additional, Rosberger, Daniel, additional, Roth, Daniel, additional, Marcus, Dennis, additional, Dehning, Doug, additional, Reichel, Elias, additional, Tilton, Elisha, additional, Fu, Evelyn, additional, Kokame, Gregg, additional, Salehi-Had, Hani, additional, Bhatt, Harit, additional, Nielsen, Jared, additional, Prensky, Jay, additional, Lim, Jennifer, additional, Adleberg, Jon, additional, Beck, Joseph, additional, Gunn, Joseph, additional, Podhorzer, Joseph, additional, Small, Kent, additional, Kooragayala, Lakshmana, additional, Freisberg, Lars, additional, Schocket, Lisa, additional, Berrocal, Maria, additional, Worrall, Martin, additional, Cassell, Michael, additional, Singer, Michael, additional, Tsipursky, Michael, additional, Holekamp, Nancy, additional, Weber, Pamela, additional, Merrill, Pauline, additional, Campochiaro, Peter, additional, Dugel, Pravin, additional, Khurana, Rahul, additional, Apte, Rajendra, additional, Rathod, Rajiv, additional, Katz, Randy, additional, Chace, Richard, additional, Kwun, Robert, additional, Grigorian, Ruben, additional, Mansour, Sam, additional, Chexal, Saradha, additional, Madreperla, Steven, additional, Gonzalez, Victor, additional, and Aldred, William, additional
- Published
- 2023
- Full Text
- View/download PDF
41. Production of Infectious Bovine Papillomavirus from Cloned Viral DNA by Using an Organotypic Raft/Xenograft Technique
- Author
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McBride, Alison A., Dlugosz, Andrzej, and Baker, Carl C.
- Published
- 2000
42. A Pyrimidine-Rich Exonic Splicing Suppressor Binds Multiple RNA Splicing Factors and Inhibits Spliceosome Assembly
- Author
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Zheng, Zhi-Ming, Huynen, Martijn, and Baker, Carl C.
- Published
- 1998
43. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
- Author
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Jansen, Sandra, Hoischen, Alexander, Coe, Bradley P., Carvill, Gemma L., Van Esch, Hilde, Bosch, Daniëlle G. M., Andersen, Ulla A., Baker, Carl, Bauters, Marijke, Bernier, Raphael A., van Bon, Bregje W., Claahsen-van der Grinten, Hedi L., Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J., Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H., Pfundt, Rolph, Steehouwer, Marloes, Stevens, Servi J. C., Stumpel, Connie T., Vansenne, Fleur, Vinci, Mirella, van de Vorst, Maartje, Vries, Petra de, Witherspoon, Kali, Veltman, Joris A., Brunner, Han G., Mefford, Heather C., Romano, Corrado, Vissers, Lisenka E. L. M., Eichler, Evan E., and de Vries, Bert B. A.
- Published
- 2018
- Full Text
- View/download PDF
44. Comparison of Snellen Visual Acuity Measurements in Retinal Clinical Practice to Electronic ETDRS Protocol Visual Acuity Assessment
- Author
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Baker, Carl W., primary, Josic, Kristin, additional, Maguire, Maureen G., additional, Jampol, Lee M., additional, Martin, Daniel F., additional, Rofagha, Soraya, additional, and Sun, Jennifer K., additional
- Published
- 2023
- Full Text
- View/download PDF
45. A draft human pangenome reference
- Author
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Liao, Wen Wei, Asri, Mobin, Ebler, Jana, Doerr, Daniel, Haukness, Marina, Hickey, Glenn, Lu, Shuangjia, Lucas, Julian K., Monlong, Jean, Abel, Haley J., Buonaiuto, Silvia, Chang, Xian H., Cheng, Haoyu, Chu, Justin, Colonna, Vincenza, Eizenga, Jordan M., Feng, Xiaowen, Fischer, Christian, Fulton, Robert S., Garg, Shilpa, Groza, Cristian, Guarracino, Andrea, Harvey, William T., Heumos, Simon, Howe, Kerstin, Jain, Miten, Lu, Tsung Yu, Markello, Charles, Martin, Fergal J., Mitchell, Matthew W., Munson, Katherine M., Mwaniki, Moses Njagi, Novak, Adam M., Olsen, Hugh E., Pesout, Trevor, Porubsky, David, Prins, Pjotr, Sibbesen, Jonas A., Sirén, Jouni, Tomlinson, Chad, Villani, Flavia, Vollger, Mitchell R., Antonacci-Fulton, Lucinda L., Baid, Gunjan, Baker, Carl A., Belyaeva, Anastasiya, Billis, Konstantinos, Carroll, Andrew, Chang, Pi Chuan, Cody, Sarah, Cook, Daniel E., Cook-Deegan, Robert M., Cornejo, Omar E., Diekhans, Mark, Ebert, Peter, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L., Formenti, Giulio, Frankish, Adam, Gao, Yan, Garrison, Nanibaa’ A., Giron, Carlos Garcia, Green, Richard E., Haggerty, Leanne, Hoekzema, Kendra, Hourlier, Thibaut, Ji, Hanlee P., Kenny, Eimear E., Koenig, Barbara A., Kolesnikov, Alexey, Korbel, Jan O., Kordosky, Jennifer, Koren, Sergey, Lee, Ho Joon, Lewis, Alexandra P., Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, McCartney, Ann, McDaniel, Jennifer, Mountcastle, Jacquelyn, Nattestad, Maria, Nurk, Sergey, Olson, Nathan D., Popejoy, Alice B., Puiu, Daniela, Rautiainen, Mikko, Regier, Allison A., Rhie, Arang, Sacco, Samuel, Sanders, Ashley D., Schneider, Valerie A., Schultz, Baergen I., Shafin, Kishwar, Smith, Michael W., Sofia, Heidi J., Abou Tayoun, Ahmad N., Thibaud-Nissen, Françoise, Tricomi, Francesca Floriana, Wagner, Justin, Walenz, Brian, Wood, Jonathan M.D., Zimin, Aleksey V., Bourque, Guillaume, Chaisson, Mark J.P., Flicek, Paul, Phillippy, Adam M., Zook, Justin M., Eichler, Evan E., Haussler, David, Wang, Ting, Jarvis, Erich D., Miga, Karen H., Garrison, Erik, Marschall, Tobias, Hall, Ira M., Li, Heng, Paten, Benedict, Liao, Wen Wei, Asri, Mobin, Ebler, Jana, Doerr, Daniel, Haukness, Marina, Hickey, Glenn, Lu, Shuangjia, Lucas, Julian K., Monlong, Jean, Abel, Haley J., Buonaiuto, Silvia, Chang, Xian H., Cheng, Haoyu, Chu, Justin, Colonna, Vincenza, Eizenga, Jordan M., Feng, Xiaowen, Fischer, Christian, Fulton, Robert S., Garg, Shilpa, Groza, Cristian, Guarracino, Andrea, Harvey, William T., Heumos, Simon, Howe, Kerstin, Jain, Miten, Lu, Tsung Yu, Markello, Charles, Martin, Fergal J., Mitchell, Matthew W., Munson, Katherine M., Mwaniki, Moses Njagi, Novak, Adam M., Olsen, Hugh E., Pesout, Trevor, Porubsky, David, Prins, Pjotr, Sibbesen, Jonas A., Sirén, Jouni, Tomlinson, Chad, Villani, Flavia, Vollger, Mitchell R., Antonacci-Fulton, Lucinda L., Baid, Gunjan, Baker, Carl A., Belyaeva, Anastasiya, Billis, Konstantinos, Carroll, Andrew, Chang, Pi Chuan, Cody, Sarah, Cook, Daniel E., Cook-Deegan, Robert M., Cornejo, Omar E., Diekhans, Mark, Ebert, Peter, Fairley, Susan, Fedrigo, Olivier, Felsenfeld, Adam L., Formenti, Giulio, Frankish, Adam, Gao, Yan, Garrison, Nanibaa’ A., Giron, Carlos Garcia, Green, Richard E., Haggerty, Leanne, Hoekzema, Kendra, Hourlier, Thibaut, Ji, Hanlee P., Kenny, Eimear E., Koenig, Barbara A., Kolesnikov, Alexey, Korbel, Jan O., Kordosky, Jennifer, Koren, Sergey, Lee, Ho Joon, Lewis, Alexandra P., Magalhães, Hugo, Marco-Sola, Santiago, Marijon, Pierre, McCartney, Ann, McDaniel, Jennifer, Mountcastle, Jacquelyn, Nattestad, Maria, Nurk, Sergey, Olson, Nathan D., Popejoy, Alice B., Puiu, Daniela, Rautiainen, Mikko, Regier, Allison A., Rhie, Arang, Sacco, Samuel, Sanders, Ashley D., Schneider, Valerie A., Schultz, Baergen I., Shafin, Kishwar, Smith, Michael W., Sofia, Heidi J., Abou Tayoun, Ahmad N., Thibaud-Nissen, Françoise, Tricomi, Francesca Floriana, Wagner, Justin, Walenz, Brian, Wood, Jonathan M.D., Zimin, Aleksey V., Bourque, Guillaume, Chaisson, Mark J.P., Flicek, Paul, Phillippy, Adam M., Zook, Justin M., Eichler, Evan E., Haussler, David, Wang, Ting, Jarvis, Erich D., Miga, Karen H., Garrison, Erik, Marschall, Tobias, Hall, Ira M., Li, Heng, and Paten, Benedict
- Abstract
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals 1. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample.
- Published
- 2023
46. Attack Scenarios Relating to Army Facility-Related Control Systems: Quantifying the Cost to Secure and Cost Savings of the Army’s FRCS Program
- Author
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Castleberry, Jerry, primary, Maldonado Rosado, Shadya, additional, Baker, Carl, additional, McKenzie, Penny, additional, Britton, Anna, additional, Watson, Mark, additional, Arthur-Durett, Kristine, additional, Lipton, Anna, additional, and Thompson, Nicholas, additional
- Published
- 2020
- Full Text
- View/download PDF
47. The 0.19-mg Fluocinolone Acetonide Intravitreal Implant for Diabetic Macular Edema
- Author
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Roth, Daniel B., Eichenbaum, David, Malik, Deepika, Radcliffe, Nathan M., Cutino, Antonio, Small, Kent W., Abdelsalam, Ahmed, Shakoor, Akbar, Moshiri, Ala, Barkmeier, Andrew, Tewari, Asheesh, Baker, Carl, Kiernan, Daniel, Rosberger, Daniel, Roth, Daniel, Eichenbaum, David, Malik, Deepika, Marcus, Dennis, Dehning, Doug, Reichel, Elias, Tilton, Elisha, Fu, Evelyn, Kokame, Gregg, Salehi-Had, Hani, Bhatt, Harit, Nielsen, Jared, Prensky, Jay, Lim, Jennifer, Adleberg, Jon, Beck, Joseph, Gunn, Joseph, Podhorzer, Joseph, Small, Kent, Kooragayala, Lakshmana, Freisberg, Lars, Schocket, Lisa, Berrocal, Maria, Worrall, Martin, Cassell, Michael, Singer, Michael, Tsipursky, Michael, Holekamp, Nancy, Weber, Pamela, Merrill, Pauline, Campochiaro, Peter, Dugel, Pravin, Khurana, Rahul, Apte, Rajendra, Rathod, Rajiv, Katz, Randy, Chace, Richard, Kwun, Robert, Grigorian, Ruben, Mansour, Sam, Chexal, Saradha, Madreperla, Steven, Gonzalez, Victor, and Aldred, William
- Abstract
To evaluate effects of the 0.19-mg fluocinolone acetonide (FAc) intravitreal implant (ILUVIEN) on intraocular pressure (IOP) in patients with diabetic macular edema (DME).
- Published
- 2024
- Full Text
- View/download PDF
48. Posttranscriptional Regulation of Papillomavirus Gene Expression
- Author
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Baker, Carl C., primary
- Published
- 2018
- Full Text
- View/download PDF
49. A Step Forward in Understanding Treatment Approaches for Diabetic Macular Edema
- Author
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Sun, Jennifer K., primary, Baker, Carl W., additional, and Jampol, Lee M., additional
- Published
- 2023
- Full Text
- View/download PDF
50. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
- Author
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Guo, Hui, Wang, Tianyun, Wu, Huidan, Long, Min, Coe, Bradley P., Li, Honghui, Xun, Guanglei, Ou, Jianjun, Chen, Biyuan, Duan, Guiqin, Bai, Ting, Zhao, Ningxia, Shen, Yidong, Li, Yun, Wang, Yazhe, Zhang, Yu, Baker, Carl, Liu, Yanling, Pang, Nan, Huang, Lian, Han, Lin, Jia, Xiangbin, Liu, Cenying, Ni, Hailun, Yang, Xinyi, Xia, Lu, Chen, Jingjing, Shen, Lu, Li, Ying, Zhao, Rongjuan, Zhao, Wenjing, Peng, Jing, Pan, Qian, Long, Zhigao, Su, Wei, Tan, Jieqiong, Du, Xiaogang, Ke, Xiaoyan, Yao, Meiling, Hu, Zhengmao, Zou, Xiaobing, Zhao, Jingping, Bernier, Raphael A., Eichler, Evan E., and Xia, Kun
- Published
- 2018
- Full Text
- View/download PDF
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