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806 results on '"Stamatoyannopoulos, John A"'

2. Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits

Author

Chun, Sung, Akle, Sebastian, Teodosiadis, Athanasios, Cade, Brian E, Wang, Heming, Sofer, Tamar, Evans, Daniel S, Stone, Katie L, Gharib, Sina A, Mukherjee, Sutapa, Palmer, Lyle J, Hillman, David, Rotter, Jerome I, Hanis, Craig L, Stamatoyannopoulos, John A, Redline, Susan, Cotsapas, Chris, and Sunyaev, Shamil R

Subjects
Biological Sciences, Genetics, Lung, Prevention, Human Genome, Sleep Research, Aetiology, 2.1 Biological and endogenous factors, Humans, Genome-Wide Association Study, Phenotype, Genetic Association Studies, Sleep Apnea, Obstructive, Sleep, Genetic Pleiotropy, Polymorphism, Single Nucleotide, DNA Primase, Developmental Biology
Abstract

Genetic association studies of many heritable traits resulting from physiological testing often have modest sample sizes due to the cost and burden of the required phenotyping. This reduces statistical power and limits discovery of multiple genetic associations. We present a strategy to leverage pleiotropy between traits to both discover new loci and to provide mechanistic hypotheses of the underlying pathophysiology. Specifically, we combine a colocalization test with a locus-level test of pleiotropy. In simulations, we show that this approach is highly selective for identifying true pleiotropy driven by the same causative variant, thereby improves the chance to replicate the associations in underpowered validation cohorts and leads to higher interpretability. Here, as an exemplar, we use Obstructive Sleep Apnea (OSA), a common disorder diagnosed using overnight multi-channel physiological testing. We leverage pleiotropy with relevant cellular and cardio-metabolic phenotypes and gene expression traits to map new risk loci in an underpowered OSA GWAS. We identify several pleiotropic loci harboring suggestive associations to OSA and genome-wide significant associations to other traits, and show that their OSA association replicates in independent cohorts of diverse ancestries. By investigating pleiotropic loci, our strategy allows proposing new hypotheses about OSA pathobiology across many physiological layers. For example, we identify and replicate the pleiotropy across the plateletcrit, OSA and an eQTL of DNA primase subunit 1 (PRIM1) in immune cells. We find suggestive links between OSA, a measure of lung function (FEV1/FVC), and an eQTL of matrix metallopeptidase 15 (MMP15) in lung tissue. We also link a previously known genome-wide significant peak for OSA in the hexokinase 1 (HK1) locus to hematocrit and other red blood cell related traits. Thus, the analysis of pleiotropic associations has the potential to assemble diverse phenotypes into a chain of mechanistic hypotheses that provide insight into the pathogenesis of complex human diseases.

Published
2022

3. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author

Barr, Cathy L., Batterson, James R., Berlin, Cheston, Budman, Cathy L., Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Dion, Yves, Freimer, Nelson B., Grados, Marco A., Greenberg, Erica, Hirschtritt, Matthew E., Huang, Alden Y., Illmann, Cornelia, King, Robert A., Kurlan, Roger, Leckman, James F., Lyon, Gholson J., Malaty, Irene A., McMahon, William M., Neale, Benjamin M., Okun, Michael S., Osiecki, Lisa, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Singer, Harvey S., Smit, Jan H., Sul, Jae Hoon, Androutsos, Christos, Basha, Entela, Farkas, Luca, Fichna, Jakub, Janik, Piotr, Kapisyzi, Mira, Karagiannidis, Iordanis, Koumoula, Anastasia, Nagy, Peter, Puchala, Joanna, Szejko, Natalia, Szymanska, Urszula, Tsironi, Vaia, Apter, Alan, Ball, Juliane, Bodmer, Benjamin, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Garcia-Delgar, Blanca, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Drineas, Petros, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nawaz, Muhammad S., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J.W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Fernandez, Thomas V., Gilbert, Donald L., Hong, Hyun Ju, Ibanez-Gomez, Laura, Kim, Eun-Joo, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Maras, Athanasios, Murphy, Tara L., Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, State, Matthew W., Visscher, Frank, Wang, Sheng, Zinner, Samuel H., Tsetsos, Fotis, Topaloudi, Apostolia, Jain, Pritesh, Yang, Zhiyu, Yu, Dongmei, Kolovos, Petros, Tumer, Zeynep, Rizzo, Renata, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Müller-Vahl, Kirsten R., Cath, Danielle C., Boomsma, Dorret I., Wolanczyk, Tomasz, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Padmanabhuni, Shanmukha S., Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Yannaki, Evangelia, Stamatoyannopoulos, John A., Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Mir, Pablo, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Roessner, Veit, Walitza, Susanne, Schrag, Anette, Martino, Davide, Tischfield, Jay A., Heiman, Gary A., Willsey, A. Jeremy, Dietrich, Andrea, Davis, Lea K., Crowley, James J., Mathews, Carol A., Scharf, Jeremiah M., Georgitsi, Marianthi, Hoekstra, Pieter J., and Paschou, Peristera

Published
2024
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4. Author Correction: Perspectives on ENCODE

Author

Snyder, Michael P, Gingeras, Thomas R, Moore, Jill E, Weng, Zhiping, Gerstein, Mark B, Ren, Bing, Hardison, Ross C, Stamatoyannopoulos, John A, Graveley, Brenton R, Feingold, Elise A, Pazin, Michael J, Pagan, Michael, Gilchrist, Daniel A, Hitz, Benjamin C, Cherry, J Michael, Bernstein, Bradley E, Mendenhall, Eric M, Zerbino, Daniel R, Frankish, Adam, Flicek, Paul, and Myers, Richard M

Subjects
ENCODE Project Consortium, General Science & Technology
Abstract

In this Article, the authors Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) were mistakenly omitted from the ENCODE Project Consortium author list. The original Article has been corrected online.

Published
2022

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

Author

Moore, Jill E, Purcaro, Michael J, Pratt, Henry E, Epstein, Charles B, Shoresh, Noam, Adrian, Jessika, Kawli, Trupti, Davis, Carrie A, Dobin, Alexander, Kaul, Rajinder, Halow, Jessica, Van Nostrand, Eric L, Freese, Peter, Gorkin, David U, Shen, Yin, He, Yupeng, Mackiewicz, Mark, Pauli-Behn, Florencia, Williams, Brian A, Mortazavi, Ali, Keller, Cheryl A, Zhang, Xiao-Ou, Elhajjajy, Shaimae I, Huey, Jack, Dickel, Diane E, Snetkova, Valentina, Wei, Xintao, Wang, Xiaofeng, Rivera-Mulia, Juan Carlos, Rozowsky, Joel, Zhang, Jing, Chhetri, Surya B, Zhang, Jialing, Victorsen, Alec, White, Kevin P, Visel, Axel, Yeo, Gene W, Burge, Christopher B, Lécuyer, Eric, Gilbert, David M, Dekker, Job, Rinn, John, Mendenhall, Eric M, Ecker, Joseph R, Kellis, Manolis, Klein, Robert J, Noble, William S, Kundaje, Anshul, Guigó, Roderic, Farnham, Peggy J, Cherry, J Michael, Myers, Richard M, Ren, Bing, Graveley, Brenton R, Gerstein, Mark B, Pennacchio, Len A, Snyder, Michael P, Bernstein, Bradley E, Wold, Barbara, Hardison, Ross C, Gingeras, Thomas R, Stamatoyannopoulos, John A, and Weng, Zhiping

Subjects
ENCODE Project Consortium, General Science & Technology
Abstract

In the version of this article initially published, two members of the ENCODE Project Consortium were missing from the author list. Rizi Ai (Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA) and Shantao Li (Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA) are now included in the author list. These errors have been corrected in the online version of the article.

Published
2022

7. Perspectives on ENCODE

Author

Snyder, Michael P, Gingeras, Thomas R, Moore, Jill E, Weng, Zhiping, Gerstein, Mark B, Ren, Bing, Hardison, Ross C, Stamatoyannopoulos, John A, Graveley, Brenton R, Feingold, Elise A, Pazin, Michael J, Pagan, Michael, Gilchrist, Daniel A, Hitz, Benjamin C, Cherry, J Michael, Bernstein, Bradley E, Mendenhall, Eric M, Zerbino, Daniel R, Frankish, Adam, Flicek, Paul, and Myers, Richard M

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, 1.1 Normal biological development and functioning, Animals, Binding Sites, Chromatin, DNA Methylation, Databases, Genetic, Gene Expression Regulation, Genome, Genome, Human, Genomics, Histones, Humans, Mice, Molecular Sequence Annotation, Quality Control, Regulatory Sequences, Nucleic Acid, Transcription Factors, ENCODE Project Consortium, General Science & Technology
Abstract

The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term goal of developing a comprehensive map of functional elements in the human genome. These included genes, biochemical regions associated with gene regulation (for example, transcription factor binding sites, open chromatin, and histone marks) and transcript isoforms. The marks serve as sites for candidate cis-regulatory elements (cCREs) that may serve functional roles in regulating gene expression1. The project has been extended to model organisms, particularly the mouse. In the third phase of ENCODE, nearly a million and more than 300,000 cCRE annotations have been generated for human and mouse, respectively, and these have provided a valuable resource for the scientific community.

Published
2020

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

Author

Moore, Jill E, Purcaro, Michael J, Pratt, Henry E, Epstein, Charles B, Shoresh, Noam, Adrian, Jessika, Kawli, Trupti, Davis, Carrie A, Dobin, Alexander, Kaul, Rajinder, Halow, Jessica, Van Nostrand, Eric L, Freese, Peter, Gorkin, David U, Shen, Yin, He, Yupeng, Mackiewicz, Mark, Pauli-Behn, Florencia, Williams, Brian A, Mortazavi, Ali, Keller, Cheryl A, Zhang, Xiao-Ou, Elhajjajy, Shaimae I, Huey, Jack, Dickel, Diane E, Snetkova, Valentina, Wei, Xintao, Wang, Xiaofeng, Rivera-Mulia, Juan Carlos, Rozowsky, Joel, Zhang, Jing, Chhetri, Surya B, Zhang, Jialing, Victorsen, Alec, White, Kevin P, Visel, Axel, Yeo, Gene W, Burge, Christopher B, Lécuyer, Eric, Gilbert, David M, Dekker, Job, Rinn, John, Mendenhall, Eric M, Ecker, Joseph R, Kellis, Manolis, Klein, Robert J, Noble, William S, Kundaje, Anshul, Guigó, Roderic, Farnham, Peggy J, Cherry, J Michael, Myers, Richard M, Ren, Bing, Graveley, Brenton R, Gerstein, Mark B, Pennacchio, Len A, Snyder, Michael P, Bernstein, Bradley E, Wold, Barbara, Hardison, Ross C, Gingeras, Thomas R, Stamatoyannopoulos, John A, and Weng, Zhiping

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, 1.1 Normal biological development and functioning, Animals, Chromatin, DNA, DNA Footprinting, DNA Methylation, DNA Replication Timing, Databases, Genetic, Deoxyribonuclease I, Genome, Genome, Human, Genomics, Histones, Humans, Mice, Mice, Transgenic, Molecular Sequence Annotation, RNA-Binding Proteins, Registries, Regulatory Sequences, Nucleic Acid, Transcription, Genetic, Transposases, ENCODE Project Consortium, General Science & Technology
Abstract

The human and mouse genomes contain instructions that specify RNAs and proteins and govern the timing, magnitude, and cellular context of their production. To better delineate these elements, phase III of the Encyclopedia of DNA Elements (ENCODE) Project has expanded analysis of the cell and tissue repertoires of RNA transcription, chromatin structure and modification, DNA methylation, chromatin looping, and occupancy by transcription factors and RNA-binding proteins. Here we summarize these efforts, which have produced 5,992 new experimental datasets, including systematic determinations across mouse fetal development. All data are available through the ENCODE data portal (https://www.encodeproject.org), including phase II ENCODE1 and Roadmap Epigenomics2 data. We have developed a registry of 926,535 human and 339,815 mouse candidate cis-regulatory elements, covering 7.9 and 3.4% of their respective genomes, by integrating selected datatypes associated with gene regulation, and constructed a web-based server (SCREEN; http://screen.encodeproject.org) to provide flexible, user-defined access to this resource. Collectively, the ENCODE data and registry provide an expansive resource for the scientific community to build a better understanding of the organization and function of the human and mouse genomes.

Published
2020

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

Author

ENCODE Project Consortium, Moore, Jill E, Purcaro, Michael J, Pratt, Henry E, Epstein, Charles B, Shoresh, Noam, Adrian, Jessika, Kawli, Trupti, Davis, Carrie A, Dobin, Alexander, Kaul, Rajinder, Halow, Jessica, Van Nostrand, Eric L, Freese, Peter, Gorkin, David U, Shen, Yin, He, Yupeng, Mackiewicz, Mark, Pauli-Behn, Florencia, Williams, Brian A, Mortazavi, Ali, Keller, Cheryl A, Zhang, Xiao-Ou, Elhajjajy, Shaimae I, Huey, Jack, Dickel, Diane E, Snetkova, Valentina, Wei, Xintao, Wang, Xiaofeng, Rivera-Mulia, Juan Carlos, Rozowsky, Joel, Zhang, Jing, Chhetri, Surya B, Zhang, Jialing, Victorsen, Alec, White, Kevin P, Visel, Axel, Yeo, Gene W, Burge, Christopher B, Lécuyer, Eric, Gilbert, David M, Dekker, Job, Rinn, John, Mendenhall, Eric M, Ecker, Joseph R, Kellis, Manolis, Klein, Robert J, Noble, William S, Kundaje, Anshul, Guigó, Roderic, Farnham, Peggy J, Cherry, J Michael, Myers, Richard M, Ren, Bing, Graveley, Brenton R, Gerstein, Mark B, Pennacchio, Len A, Snyder, Michael P, Bernstein, Bradley E, Wold, Barbara, Hardison, Ross C, Gingeras, Thomas R, Stamatoyannopoulos, John A, and Weng, Zhiping

Subjects
ENCODE Project Consortium, Chromatin, Animals, Mice, Transgenic, Humans, Mice, Deoxyribonuclease I, Transposases, RNA-Binding Proteins, Histones, DNA, Registries, DNA Footprinting, Genomics, DNA Methylation, DNA Replication Timing, Transcription, Genetic, Regulatory Sequences, Nucleic Acid, Genome, Genome, Human, Databases, Genetic, Molecular Sequence Annotation, Human Genome, HIV/AIDS, Vaccine Related, Biotechnology, Genetics, Immunization, Vaccine Related (AIDS), Prevention, 1.1 Normal biological development and functioning, Generic health relevance, General Science & Technology
Abstract

The human and mouse genomes contain instructions that specify RNAs and proteins and govern the timing, magnitude, and cellular context of their production. To better delineate these elements, phase III of the Encyclopedia of DNA Elements (ENCODE) Project has expanded analysis of the cell and tissue repertoires of RNA transcription, chromatin structure and modification, DNA methylation, chromatin looping, and occupancy by transcription factors and RNA-binding proteins. Here we summarize these efforts, which have produced 5,992 new experimental datasets, including systematic determinations across mouse fetal development. All data are available through the ENCODE data portal (https://www.encodeproject.org), including phase II ENCODE1 and Roadmap Epigenomics2 data. We have developed a registry of 926,535 human and 339,815 mouse candidate cis-regulatory elements, covering 7.9 and 3.4% of their respective genomes, by integrating selected datatypes associated with gene regulation, and constructed a web-based server (SCREEN; http://screen.encodeproject.org) to provide flexible, user-defined access to this resource. Collectively, the ENCODE data and registry provide an expansive resource for the scientific community to build a better understanding of the organization and function of the human and mouse genomes.

Published
2020

10. Perspectives on ENCODE.

Author

ENCODE Project Consortium, Snyder, Michael P, Gingeras, Thomas R, Moore, Jill E, Weng, Zhiping, Gerstein, Mark B, Ren, Bing, Hardison, Ross C, Stamatoyannopoulos, John A, Graveley, Brenton R, Feingold, Elise A, Pazin, Michael J, Pagan, Michael, Gilchrist, Daniel A, Hitz, Benjamin C, Cherry, J Michael, Bernstein, Bradley E, Mendenhall, Eric M, Zerbino, Daniel R, Frankish, Adam, Flicek, Paul, and Myers, Richard M

Subjects
ENCODE Project Consortium, Chromatin, Animals, Humans, Mice, Histones, Transcription Factors, Genomics, DNA Methylation, Gene Expression Regulation, Binding Sites, Regulatory Sequences, Nucleic Acid, Genome, Genome, Human, Quality Control, Databases, Genetic, Molecular Sequence Annotation, Human Genome, Vaccine Related, Biotechnology, Genetics, Immunization, Vaccine Related (AIDS), Prevention, 1.1 Normal biological development and functioning, Generic health relevance, General Science & Technology
Abstract

The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term goal of developing a comprehensive map of functional elements in the human genome. These included genes, biochemical regions associated with gene regulation (for example, transcription factor binding sites, open chromatin, and histone marks) and transcript isoforms. The marks serve as sites for candidate cis-regulatory elements (cCREs) that may serve functional roles in regulating gene expression1. The project has been extended to model organisms, particularly the mouse. In the third phase of ENCODE, nearly a million and more than 300,000 cCRE annotations have been generated for human and mouse, respectively, and these have provided a valuable resource for the scientific community.

Published
2020

13. Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease

Author

Anand, Shankara, Gabriel, Stacey, Getz, Gad A., Graubert, Aaron, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Li, Xiao, MacArthur, Daniel G., Meier, Samuel R., Nedzel, Jared L., Nguyen, Duyen T., Segrè, Ayellet V., Todres, Ellen, Balliu, Brunilda, Bonazzola, Rodrigo, Brown, Andrew, Conrad, Donald F., Cotter, Daniel J., Cox, Nancy, Das, Sayantan, Dermitzakis, Emmanouil T., Einson, Jonah, Engelhardt, Barbara E., Eskin, Eleazar, Flynn, Elise D., Fresard, Laure, Gamazon, Eric R., Garrido-Martín, Diego, Gay, Nicole R., Guigó, Roderic, Hamel, Andrew R., He, Yuan, Hoffman, Paul J., Hormozdiari, Farhad, Hou, Lei, Jo, Brian, Kasela, Silva, Kashin, Seva, Kellis, Manolis, Kwong, Alan, Li, Xin, Liang, Yanyu, Mangul, Serghei, Mohammadi, Pejman, Muñoz-Aguirre, Manuel, Nobel, Andrew B., Oliva, Meritxell, Park, Yongjin, Parsana, Princy, Reverter, Ferran, Rouhana, John M., Sabatti, Chiara, Saha, Ashis, Stephens, Matthew, Stranger, Barbara E., Teran, Nicole A., Viñuela, Ana, Wang, Gao, Wright, Fred, Wucher, Valentin, Zou, Yuxin, Ferreira, Pedro G., Li, Gen, Melé, Marta, Yeger-Lotem, Esti, Bradbury, Debra, Krubit, Tanya, McLean, Jeffrey A., Qi, Liqun, Robinson, Karna, Roche, Nancy V., Smith, Anna M., Tabor, David E., Undale, Anita, Bridge, Jason, Brigham, Lori E., Foster, Barbara A., Gillard, Bryan M., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Karasik, Ellen, Kopen, Gene, Leinweber, William F., McDonald, Alisa, Moser, Michael T., Myer, Kevin, Ramsey, Kimberley D., Roe, Brian, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Jewell, Scott D., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Barcus, Mary E., Branton, Philip A., Sobin, Leslie, Barker, Laura K., Gardiner, Heather M., Mosavel, Maghboeba, Siminoff, Laura A., Flicek, Paul, Haeussler, Maximilian, Juettemann, Thomas, Kent, W. James, Lee, Christopher M., Powell, Conner C., Rosenbloom, Kate R., Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Abell, Nathan S., Akey, Joshua, Chen, Lin, Demanelis, Kathryn, Doherty, Jennifer A., Feinberg, Andrew P., Hansen, Kasper D., Hickey, Peter F., Jasmine, Farzana, Jiang, Lihua, Kaul, Rajinder, Kibriya, Muhammad G., Li, Jin Billy, Li, Qin, Lin, Shin, Linder, Sandra E., Pierce, Brandon L., Rizzardi, Lindsay F., Skol, Andrew D., Smith, Kevin S., Snyder, Michael, Stamatoyannopoulos, John, Tang, Hua, Wang, Meng, Carithers, Latarsha J., Guan, Ping, Koester, Susan E., Little, A. Roger, Moore, Helen M., Nierras, Concepcion R., Rao, Abhi K., Vaught, Jimmie B., Volpi, Simona, de Goede, Olivia M., Nachun, Daniel C., Ferraro, Nicole M., Gloudemans, Michael J., Rao, Abhiram S., Smail, Craig, Eulalio, Tiffany Y., Aguet, François, Ng, Bernard, Xu, Jishu, Barbeira, Alvaro N., Castel, Stephane E., Kim-Hellmuth, Sarah, Park, YoSon, Scott, Alexandra J., Strober, Benjamin J., Brown, Christopher D., Wen, Xiaoquan, Hall, Ira M., Battle, Alexis, Lappalainen, Tuuli, Im, Hae Kyung, Ardlie, Kristin G., Mostafavi, Sara, Quertermous, Thomas, Kirkegaard, Karla, and Montgomery, Stephen B.

Published
2021
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15. A Quantitative Proteome Map of the Human Body

Author

Aguet, François, Anand, Shankara, Ardlie, Kristin G., Gabriel, Stacey, Getz, Gad, Graubert, Aaron, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, MacArthur, Daniel G., Meier, Samuel R., Nedzel, Jared L., Nguyen, Duyen Y., Segrè, Ayellet V., Todres, Ellen, Balliu, Brunilda, Barbeira, Alvaro N., Battle, Alexis, Bonazzola, Rodrigo, Brown, Andrew, Brown, Christopher D., Castel, Stephane E., Conrad, Don, Cotter, Daniel J., Cox, Nancy, Das, Sayantan, de Goede, Olivia M., Dermitzakis, Emmanouil T., Engelhardt, Barbara E., Eskin, Eleazar, Eulalio, Tiffany Y., Ferraro, Nicole M., Flynn, Elise, Fresard, Laure, Gamazon, Eric R., Garrido-Martín, Diego, Gay, Nicole R., Guigó, Roderic, Hamel, Andrew R., He, Yuan, Hoffman, Paul J., Hormozdiari, Farhad, Hou, Lei, Im, Hae Kyung, Jo, Brian, Kasela, Silva, Kellis, Manolis, Kim-Hellmuth, Sarah, Kwong, Alan, Lappalainen, Tuuli, Li, Xin, Liang, Yanyu, Mangul, Serghei, Mohammadi, Pejman, Montgomery, Stephen B., Muñoz-Aguirre, Manuel, Nachun, Daniel C., Nobel, Andrew B., Oliva, Meritxell, Park, YoSon, Park, Yongjin, Parsana, Princy, Reverter, Ferran, Rouhana, John M., Sabatti, Chiara, Saha, Ashis, Skol, Andrew D., Stephens, Matthew, Stranger, Barbara E., Strober, Benjamin J., Teran, Nicole A., Viñuela, Ana, Wang, Gao, Wen, Xiaoquan, Wright, Fred, Wucher, Valentin, Zou, Yuxin, Ferreira, Pedro G., Li, Gen, Melé, Marta, Yeger-Lotem, Esti, Barcus, Mary E., Bradbury, Debra, Krubit, Tanya, McLean, Jeffrey A., Qi, Liqun, Robinson, Karna, Roche, Nancy V., Smith, Anna M., Sobin, Leslie, Tabor, David E., Undale, Anita, Bridge, Jason, Brigham, Lori E., Foster, Barbara A., Gillard, Bryan M., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Karasik, Ellen, Kopen, Gene, Leinweber, William F., McDonald, Alisa, Moser, Michael T., Myer, Kevin, Ramsey, Kimberley D., Roe, Brian, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Jewell, Scott D., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Branton, Philip A., Barker, Laura K., Gardiner, Heather M., Mosavel, Maghboeba, Siminoff, Laura A., Flicek, Paul, Haeussler, Maximilian, Juettemann, Thomas, Kent, W. James, Lee, Christopher M., Powell, Conner C., Rosenbloom, Kate R., Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Abell, Nathan S., Akey, Joshua, Chen, Lin, Demanelis, Kathryn, Doherty, Jennifer A., Feinberg, Andrew P., Hansen, Kasper D., Hickey, Peter F., Jasmine, Farzana, Kaul, Rajinder, Kibriya, Muhammad G., Li, Jin Billy, Li, Qin, Linder, Sandra E., Pierce, Brandon L., Rizzardi, Lindsay F., Smith, Kevin S., Stamatoyannopoulos, John, Tang, Hua, Carithers, Latarsha J., Guan, Ping, Koester, Susan E., Little, A. Roger, Moore, Helen M., Nierras, Concepcion R., Rao, Abhi K., Vaught, Jimmie B., Volpi, Simona, Jiang, Lihua, Wang, Meng, Lin, Shin, Jian, Ruiqi, Li, Xiao, Chan, Joanne, Dong, Guanlan, Fang, Huaying, Robinson, Aaron E., and Snyder, Michael P.

Published
2020
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16. Global Regulatory DNA Potentiation by SMARCA4 Propagates to Selective Gene Expression Programs via Domain-Level Remodeling

Author

Lazar, John E., Stehling-Sun, Sandra, Nandakumar, Vivek, Wang, Hao, Chee, Daniel R., Howard, Nicholas P., Acosta, Reyes, Dunn, Douglass, Diegel, Morgan, Neri, Fidencio, Castillo, Andres, Ibarrientos, Sean, Lee, Kristen, Lescano, Ninnia, Van Biber, Ben, Nelson, Jemma, Halow, Jessica, Sandstrom, Richard, Bates, Daniel, Urnov, Fyodor D., Stamatoyannopoulos, John A., and Funnell, Alister P.W.

Published
2020
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17. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Author

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

Subjects
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.

Published
2016

18. Index and biological spectrum of human DNase I hypersensitive sites

Author

Meuleman, Wouter, Muratov, Alexander, Rynes, Eric, Halow, Jessica, Lee, Kristen, Bates, Daniel, Diegel, Morgan, Dunn, Douglas, Neri, Fidencio, Teodosiadis, Athanasios, Reynolds, Alex, Haugen, Eric, Nelson, Jemma, Johnson, Audra, Frerker, Mark, Buckley, Michael, Sandstrom, Richard, Vierstra, Jeff, Kaul, Rajinder, and Stamatoyannopoulos, John

Published
2020
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19. Global reference mapping of human transcription factor footprints

Author

Vierstra, Jeff, Lazar, John, Sandstrom, Richard, Halow, Jessica, Lee, Kristen, Bates, Daniel, Diegel, Morgan, Dunn, Douglas, Neri, Fidencio, Haugen, Eric, Rynes, Eric, Reynolds, Alex, Nelson, Jemma, Johnson, Audra, Frerker, Mark, Buckley, Michael, Kaul, Rajinder, Meuleman, Wouter, and Stamatoyannopoulos, John A.

Published
2020
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20. Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults.

Author

Hochner, Hagit, Allard, Catherine, Granot-Hershkovitz, Einat, Chen, Jinbo, Sitlani, Colleen M, Sazdovska, Sandra, Lumley, Thomas, McKnight, Barbara, Rice, Kenneth, Enquobahrie, Daniel A, Meigs, James B, Kwok, Pui, Hivert, Marie-France, Borecki, Ingrid B, Gomez, Felicia, Wang, Ting, van Duijn, Cornelia, Amin, Najaf, Rotter, Jerome I, Stamatoyannopoulos, John, Meiner, Vardiella, Manor, Orly, Dupuis, Josée, Friedlander, Yechiel, and Siscovick, David S

Subjects
Humans, Obesity, Cholesterol, Insulin, Glucose, Body Mass Index, Waist-Hip Ratio, Genomic Imprinting, Polymorphism, Single Nucleotide, Adult, Female, Male, Adiposity, Apolipoprotein B-100, Waist Circumference, Genome-Wide Association Study, Young Adult, Developmental Biology, Genetics
Abstract

Loci identified in genome-wide association studies (GWAS) of cardio-metabolic traits account for a small proportion of the traits' heritability. To date, most association studies have not considered parent-of-origin effects (POEs). Here we report investigation of POEs on adiposity and glycemic traits in young adults. The Jerusalem Perinatal Family Follow-Up Study (JPS), comprising 1250 young adults and their mothers was used for discovery. Focusing on 18 genes identified by previous GWAS as associated with cardio-metabolic traits, we used linear regression to examine the associations of maternally- and paternally-derived offspring minor alleles with body mass index (BMI), waist circumference (WC), fasting glucose and insulin. We replicated and meta-analyzed JPS findings in individuals of European ancestry aged ≤50 belonging to pedigrees from the Framingham Heart Study, Family Heart Study and Erasmus Rucphen Family study (total N≅4800). We considered p0.6). Suggestive maternally-derived associations of rs1367117 were observed with fasting glucose (β = 0.9; 95%CI:0.3,1.5; p = 4.0x10-3) and insulin (ln-transformed, β = 0.06; 95%CI:0.03,0.1; p = 7.4x10-4). Bioinformatic annotation for rs1367117 revealed a variety of regulatory functions in this region in liver and adipose tissues and a 50% methylation pattern in liver only, consistent with allelic-specific methylation, which may indicate tissue-specific POE. Our findings demonstrate a maternal-specific association between a common APOB variant and adiposity, an association that was not previously detected in GWAS. These results provide evidence for the role of regulatory mechanisms, POEs specifically, in adiposity. In addition this study highlights the benefit of utilizing family studies for deciphering the genetic architecture of complex traits.

Published
2015

21. Resolving the complexity of the human genome using single-molecule sequencing

Author

Chaisson, Mark JP, Huddleston, John, Dennis, Megan Y, Sudmant, Peter H, Malig, Maika, Hormozdiari, Fereydoun, Antonacci, Francesca, Surti, Urvashi, Sandstrom, Richard, Boitano, Matthew, Landolin, Jane M, Stamatoyannopoulos, John A, Hunkapiller, Michael W, Korlach, Jonas, and Eichler, Evan E

Subjects
Genetics, Human Genome, Generic health relevance, Chromosome Inversion, Chromosomes, Human, Pair 10, Cloning, Molecular, GC Rich Sequence, Genetic Variation, Genome, Human, Genomics, Haploidy, Humans, Mutagenesis, Insertional, Reference Standards, Sequence Analysis, DNA, Tandem Repeat Sequences, General Science & Technology
Abstract

The human genome is arguably the most complete mammalian reference assembly, yet more than 160 euchromatic gaps remain and aspects of its structural variation remain poorly understood ten years after its completion. To identify missing sequence and genetic variation, here we sequence and analyse a haploid human genome (CHM1) using single-molecule, real-time DNA sequencing. We close or extend 55% of the remaining interstitial gaps in the human GRCh37 reference genome--78% of which carried long runs of degenerate short tandem repeats, often several kilobases in length, embedded within (G+C)-rich genomic regions. We resolve the complete sequence of 26,079 euchromatic structural variants at the base-pair level, including inversions, complex insertions and long tracts of tandem repeats. Most have not been previously reported, with the greatest increases in sensitivity occurring for events less than 5 kilobases in size. Compared to the human reference, we find a significant insertional bias (3:1) in regions corresponding to complex insertions and long short tandem repeats. Our results suggest a greater complexity of the human genome in the form of variation of longer and more complex repetitive DNA that can now be largely resolved with the application of this longer-read sequencing technology.

Published
2015

24. Mouse regulatory DNA landscapes reveal global principles of cis-regulatory evolution

Author

Vierstra, Jeff, Rynes, Eric, Sandstrom, Richard, Zhang, Miaohua, Canfield, Theresa, Hansen, R Scott, Stehling-Sun, Sandra, Sabo, Peter J, Byron, Rachel, Humbert, Richard, Thurman, Robert E, Johnson, Audra K, Vong, Shinny, Lee, Kristen, Bates, Daniel, Neri, Fidencio, Diegel, Morgan, Giste, Erika, Haugen, Eric, Dunn, Douglas, Wilken, Matthew S, Josefowicz, Steven, Samstein, Robert, Chang, Kai-Hsin, Eichler, Evan E, De Bruijn, Marella, Reh, Thomas A, Skoultchi, Arthur, Rudensky, Alexander, Orkin, Stuart H, Papayannopoulou, Thalia, Treuting, Piper M, Selleri, Licia, Kaul, Rajinder, Groudine, Mark, Bender, MA, and Stamatoyannopoulos, John A

Subjects
Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Biological Sciences, Biotechnology, Human Genome, Genetics, Generic health relevance, Animals, Base Sequence, Conserved Sequence, DNA, Deoxyribonuclease I, Evolution, Molecular, Genome, Human, Humans, Mice, Regulatory Sequences, Nucleic Acid, Restriction Mapping, Transcription Factors, General Science & Technology
Abstract

To study the evolutionary dynamics of regulatory DNA, we mapped >1.3 million deoxyribonuclease I-hypersensitive sites (DHSs) in 45 mouse cell and tissue types, and systematically compared these with human DHS maps from orthologous compartments. We found that the mouse and human genomes have undergone extensive cis-regulatory rewiring that combines branch-specific evolutionary innovation and loss with widespread repurposing of conserved DHSs to alternative cell fates, and that this process is mediated by turnover of transcription factor (TF) recognition elements. Despite pervasive evolutionary remodeling of the location and content of individual cis-regulatory regions, within orthologous mouse and human cell types the global fraction of regulatory DNA bases encoding recognition sites for each TF has been strictly conserved. Our findings provide new insights into the evolutionary forces shaping mammalian regulatory DNA landscapes.

Published
2014

25. An encyclopedia of enhancer-gene regulatory interactions in the human genome

Author

Gschwind, Andreas R., primary, Mualim, Kristy S., additional, Karbalayghareh, Alireza, additional, Sheth, Maya U., additional, Dey, Kushal K., additional, Jagoda, Evelyn, additional, Nurtdinov, Ramil N., additional, Xi, Wang, additional, Tan, Anthony S., additional, Jones, Hank, additional, Ma, X. Rosa, additional, Yao, David, additional, Nasser, Joseph, additional, Avsec, Žiga, additional, James, Benjamin T., additional, Shamim, Muhammad S., additional, Durand, Neva C., additional, Rao, Suhas S. P., additional, Mahajan, Ragini, additional, Doughty, Benjamin R., additional, Andreeva, Kalina, additional, Ulirsch, Jacob C., additional, Fan, Kaili, additional, Perez, Elizabeth M., additional, Nguyen, Tri C., additional, Kelley, David R., additional, Finucane, Hilary K., additional, Moore, Jill E., additional, Weng, Zhiping, additional, Kellis, Manolis, additional, Bassik, Michael C., additional, Price, Alkes L., additional, Beer, Michael A., additional, Guigó, Roderic, additional, Stamatoyannopoulos, John A., additional, Aiden, Erez Lieberman, additional, Greenleaf, William J., additional, Leslie, Christina S., additional, Steinmetz, Lars M., additional, Kundaje, Anshul, additional, and Engreitz, Jesse M., additional

Published
2023
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26. Large-scale discovery of potent, compact and lineage specific enhancers for gene therapy vectors

Author

Psatha, Nikoletta, primary, Sova, Pavel, additional, Georgolopoulos, Grigorios, additional, Paschoudi, Kiriaki, additional, Iwata, Mineo, additional, Bloom, Jordan, additional, Ulyanova, Tatyana, additional, Wang, Hao, additional, Kirtsou, Alexandra, additional, Vasiloudis, Ninos-Ioannis, additional, Wilken, Matthew S, additional, Stamatoyannopoulos, John A, additional, Yannaki, Evangelia, additional, Papayannopoulou, Thalia, additional, Stamatoyannopoulos, George, additional, and Vierstra, Jeff, additional

Published
2023
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27. RFECS: a random-forest based algorithm for enhancer identification from chromatin state.

Author

Rajagopal, Nisha, Xie, Wei, Li, Yan, Wagner, Uli, Wang, Wei, Stamatoyannopoulos, John, Ernst, Jason, Kellis, Manolis, and Ren, Bing

Subjects
Cell Line, Chromatin, Humans, Histones, Transcription Factors, Area Under Curve, Cluster Analysis, Reproducibility of Results, Computational Biology, Binding Sites, Algorithms, Decision Trees, Databases, Genetic, Enhancer Elements, Genetic, Databases, Genetic, Enhancer Elements, Mathematical Sciences, Biological Sciences, Information and Computing Sciences, Bioinformatics
Abstract

Transcriptional enhancers play critical roles in regulation of gene expression, but their identification in the eukaryotic genome has been challenging. Recently, it was shown that enhancers in the mammalian genome are associated with characteristic histone modification patterns, which have been increasingly exploited for enhancer identification. However, only a limited number of cell types or chromatin marks have previously been investigated for this purpose, leaving the question unanswered whether there exists an optimal set of histone modifications for enhancer prediction in different cell types. Here, we address this issue by exploring genome-wide profiles of 24 histone modifications in two distinct human cell types, embryonic stem cells and lung fibroblasts. We developed a Random-Forest based algorithm, RFECS (Random Forest based Enhancer identification from Chromatin States) to integrate histone modification profiles for identification of enhancers, and used it to identify enhancers in a number of cell-types. We show that RFECS not only leads to more accurate and precise prediction of enhancers than previous methods, but also helps identify the most informative and robust set of three chromatin marks for enhancer prediction.

Published
2013

28. The role of chromatin accessibility in directing the widespread, overlapping patterns of Drosophila transcription factor binding

Author

Li, Xiao-Yong, Thomas, Sean, Sabo, Peter J, Eisen, Michael B, Stamatoyannopoulos, John A, and Biggin, Mark D

Abstract

Abstract Background In Drosophila embryos, many biochemically and functionally unrelated transcription factors bind quantitatively to highly overlapping sets of genomic regions, with much of the lowest levels of binding being incidental, non-functional interactions on DNA. The primary biochemical mechanisms that drive these genome-wide occupancy patterns have yet to be established. Results Here we use data resulting from the DNaseI digestion of isolated embryo nuclei to provide a biophysical measure of the degree to which proteins can access different regions of the genome. We show that the in vivo binding patterns of 21 developmental regulators are quantitatively correlated with DNA accessibility in chromatin. Furthermore, we find that levels of factor occupancy in vivo correlate much more with the degree of chromatin accessibility than with occupancy predicted from in vitro affinity measurements using purified protein and naked DNA. Within accessible regions, however, the intrinsic affinity of the factor for DNA does play a role in determining net occupancy, with even weak affinity recognition sites contributing. Finally, we show that programmed changes in chromatin accessibility between different developmental stages correlate with quantitative alterations in factor binding. Conclusions Based on these and other results, we propose a general mechanism to explain the widespread, overlapping DNA binding by animal transcription factors. In this view, transcription factors are expressed at sufficiently high concentrations in cells such that they can occupy their recognition sequences in highly accessible chromatin without the aid of physical cooperative interactions with other proteins, leading to highly overlapping, graded binding of unrelated factors.

Published
2011

29. Comprehensive analysis of the chromatin landscape in Drosophila melanogaster

Author

Kharchenko, Peter V, Alekseyenko, Artyom A, Schwartz, Yuri B, Minoda, Aki, Riddle, Nicole C, Ernst, Jason, Sabo, Peter J, Larschan, Erica, Gorchakov, Andrey A, Gu, Tingting, Linder-Basso, Daniela, Plachetka, Annette, Shanower, Gregory, Tolstorukov, Michael Y, Luquette, Lovelace J, Xi, Ruibin, Jung, Youngsook L, Park, Richard W, Bishop, Eric P, Canfield, Theresa K, Sandstrom, Richard, Thurman, Robert E, MacAlpine, David M, Stamatoyannopoulos, John A, Kellis, Manolis, Elgin, Sarah CR, Kuroda, Mitzi I, Pirrotta, Vincenzo, Karpen, Gary H, and Park, Peter J

Subjects
Biotechnology, Human Genome, Genetics, Prevention, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Cell Line, Chromatin, Chromatin Immunoprecipitation, Chromosomal Proteins, Non-Histone, Deoxyribonuclease I, Drosophila Proteins, Drosophila melanogaster, Exons, Gene Expression Regulation, Genes, Insect, Genome, Insect, Histones, Male, Molecular Sequence Annotation, Oligonucleotide Array Sequence Analysis, Polycomb Repressive Complex 1, RNA, Sequence Analysis, Transcription, Genetic, General Science & Technology
Abstract

Chromatin is composed of DNA and a variety of modified histones and non-histone proteins, which have an impact on cell differentiation, gene regulation and other key cellular processes. Here we present a genome-wide chromatin landscape for Drosophila melanogaster based on eighteen histone modifications, summarized by nine prevalent combinatorial patterns. Integrative analysis with other data (non-histone chromatin proteins, DNase I hypersensitivity, GRO-Seq reads produced by engaged polymerase, short/long RNA products) reveals discrete characteristics of chromosomes, genes, regulatory elements and other functional domains. We find that active genes display distinct chromatin signatures that are correlated with disparate gene lengths, exon patterns, regulatory functions and genomic contexts. We also demonstrate a diversity of signatures among Polycomb targets that include a subset with paused polymerase. This systematic profiling and integrative analysis of chromatin signatures provides insights into how genomic elements are regulated, and will serve as a resource for future experimental investigations of genome structure and function.

Published
2011

32. P1358: MINING THE GENOME FOR ERYTHROID SPECIFIC ENHANCERS TO OPTIMIZE GENE THERAPY VECTORS FOR BETA-HEMOGLOBINOPATHIES

Author

Paschoudi, Kiriaki, primary, Georgolopoulos, Grigorios, additional, Sova, Pavel, additional, Ninos Vasiloudis, Ioannis, additional, Kirtsou, Alexandra, additional, Papadopoulos, Fotios, additional, Iwata, Mineo, additional, Wang, Hau, additional, Beta, Christina, additional, Papayannopoulou, Thalia, additional, Stamatoyannopoulos, John, additional, Yannaki, Evangelia, additional, Viestra, Jeff, additional, and Psatha, Nikoletta, additional

Published
2023
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33. Positively selected enhancer elements endow osteosarcoma cells with metastatic competence

Author

Morrow, James J, Bayles, Ian, Funnell, Alister P W, Miller, Tyler E, Saiakhova, Alina, Lizardo, Michael M, Bartels, Cynthia F, Kapteijn, Maaike Y, Hung, Stevephen, Mendoza, Arnulfo, Dhillon, Gursimran, Chee, Daniel R, Myers, Jay T, Allen, Frederick, Gambarotti, Marco, Righi, Alberto, DiFeo, Analisa, Rubin, Brian P, Huang, Alex Y, Meltzer, Paul S, Helman, Lee J, Picci, Piero, Versteeg, Henri H, Stamatoyannopoulos, John A, Khanna, Chand, and Scacheri, Peter C

Subjects
Osteosarcoma -- Development and progression -- Genetic aspects -- Research, Cancer metastasis -- Development and progression -- Genetic aspects -- Research, Biological sciences, Health
Abstract

Metastasis results from a complex set of traits acquired by tumor cells, distinct from those necessary for tumorigenesis. Here, we investigate the contribution of enhancer elements to the metastatic phenotype of osteosarcoma. Through epigenomic profiling, we identify substantial differences in enhancer activity between primary and metastatic human tumors and between near isogenic pairs of highly lung metastatic and nonmetastatic osteosarcoma cell lines. We term these regions metastatic variant enhancer loci (Met-VELs). Met-VELs drive coordinated waves of gene expression during metastatic colonization of the lung. Met-VELs cluster nonrandomly in the genome, indicating that activity of these enhancers and expression of their associated gene targets are positively selected. As evidence of this causal association, osteosarcoma lung metastasis is inhibited by global interruptions of Met-VEL-associated gene expression via pharmacologic BET inhibition, by knockdown of AP-1 transcription factors that occupy Met-VELs, and by knockdown or functional inhibition of individual genes activated by Met-VELs, such as that encoding coagulation factor III/tissue factor (F3). We further show that genetic deletion of a single Met-VEL at the F3 locus blocks metastatic cell outgrowth in the lung. These findings indicate that Met-VELs and the genes they regulate play a functional role in metastasis and may be suitable targets for antimetastatic therapies., Author(s): James J Morrow [1, 2]; Ian Bayles [2]; Alister P W Funnell [3]; Tyler E Miller [1]; Alina Saiakhova [2]; Michael M Lizardo [4]; Cynthia F Bartels [2]; Maaike [...]

Published
2018
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34. Integrative detection and analysis of structural variation in cancer genomes

Author

Dixon, Jesse R., Xu, Jie, Dileep, Vishnu, Zhan, Ye, Song, Fan, Le, Victoria T., Yardımcı, Galip Gürkan, Chakraborty, Abhijit, Bann, Darrin V., Wang, Yanli, Clark, Royden, Zhang, Lijun, Yang, Hongbo, Liu, Tingting, Iyyanki, Sriranga, An, Lin, Pool, Christopher, Sasaki, Takayo, Rivera-Mulia, Juan Carlos, Ozadam, Hakan, Lajoie, Bryan R., Kaul, Rajinder, Buckley, Michael, Lee, Kristen, Diegel, Morgan, Pezic, Dubravka, Ernst, Christina, Hadjur, Suzana, Odom, Duncan T., Stamatoyannopoulos, John A., Broach, James R., Hardison, Ross C., Ay, Ferhat, Noble, William Stafford, Dekker, Job, Gilbert, David M., and Yue, Feng

Published
2018
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35. Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation

Author

National Science Foundation (US), Jain, Pritesh R., Burch, Myson, Martínez, Melanie, Mir, Pablo, Fichna, Jakub P., Zekanowski, Cezary, Rizzo, Renata, Tümer, Zeynep, Barta, Csaba, Yannaki, Evangelia, Stamatoyannopoulos, John, Drineas, Petros, Paschou, Peristera, National Science Foundation (US), Jain, Pritesh R., Burch, Myson, Martínez, Melanie, Mir, Pablo, Fichna, Jakub P., Zekanowski, Cezary, Rizzo, Renata, Tümer, Zeynep, Barta, Csaba, Yannaki, Evangelia, Stamatoyannopoulos, John, Drineas, Petros, and Paschou, Peristera

Abstract

Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. The extent to which genetic risk, as identified by Genome Wide Association Study (GWAS), correlates to disease prevalence in different populations has not been investigated systematically. Here, we studied 14 different complex disorders and explored whether polygenic risk scores (PRS) based on current GWAS correlate to disease prevalence within Europe and around the world. A clear variation in GWAS-based genetic risk was observed based on ancestry and we identified populations that have a higher genetic liability for developing certain disorders. We found that for four out of the 14 studied disorders, PRS significantly correlates to disease prevalence within Europe. We also found significant correlations between worldwide disease prevalence and PRS for eight of the studied disorders with Multiple Sclerosis genetic risk having the highest correlation to disease prevalence. Based on current GWAS results, the across population differences in genetic risk for certain disorders can potentially be used to understand differences in disease prevalence and identify populations with the highest genetic liability. The study highlights both the limitations of PRS based on current GWAS but also the fact that in some cases, PRS may already have high predictive power. This could be due to the genetic architecture of specific disorders or increased GWAS power in some cases.

Published
2023

39. Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author

Tsetsos, Fotis, primary, Topaloudi, Apostolia, additional, Jain, Pritesh, additional, Yang, Zhiyu, additional, Yu, Dongmei, additional, Kolovos, Petros, additional, Tumer, Zeynep, additional, Rizzo, Renata, additional, Hartmann, Andreas, additional, Depienne, Christel, additional, Worbe, Yulia, additional, Müller-Vahl, Kirsten R., additional, Cath, Danielle C., additional, Boomsma, Dorret I., additional, Wolanczyk, Tomasz, additional, Zekanowski, Cezary, additional, Barta, Csaba, additional, Nemoda, Zsofia, additional, Tarnok, Zsanett, additional, Padmanabhuni, Shanmukha S., additional, Buxbaum, Joseph D., additional, Grice, Dorothy, additional, Glennon, Jeffrey, additional, Stefansson, Hreinn, additional, Hengerer, Bastian, additional, Yannaki, Evangelia, additional, Stamatoyannopoulos, John A., additional, Benaroya-Milshtein, Noa, additional, Cardona, Francesco, additional, Hedderly, Tammy, additional, Heyman, Isobel, additional, Huyser, Chaim, additional, Mir, Pablo, additional, Morer, Astrid, additional, Mueller, Norbert, additional, Munchau, Alexander, additional, Plessen, Kerstin J., additional, Porcelli, Cesare, additional, Roessner, Veit, additional, Walitza, Susanne, additional, Schrag, Anette, additional, Martino, Davide, additional, Tischfield, Jay A., additional, Heiman, Gary A., additional, Willsey, A. Jeremy, additional, Dietrich, Andrea, additional, Davis, Lea K., additional, Crowley, James J., additional, Mathews, Carol A., additional, Scharf, Jeremiah M., additional, Georgitsi, Marianthi, additional, Hoekstra, Pieter J., additional, Paschou, Peristera, additional, Barr, Cathy L., additional, Batterson, James R., additional, Berlin, Cheston, additional, Budman, Cathy L., additional, Coppola, Giovanni, additional, Cox, Nancy J., additional, Darrow, Sabrina, additional, Dion, Yves, additional, Freimer, Nelson B., additional, Grados, Marco A., additional, Greenberg, Erica, additional, Hirschtritt, Matthew E., additional, Huang, Alden Y., additional, Illmann, Cornelia, additional, King, Robert A., additional, Kurlan, Roger, additional, Leckman, James F., additional, Lyon, Gholson J., additional, Malaty, Irene A., additional, McMahon, William M., additional, Neale, Benjamin M., additional, Okun, Michael S., additional, Osiecki, Lisa, additional, Robertson, Mary M., additional, Rouleau, Guy A., additional, Sandor, Paul, additional, Singer, Harvey S., additional, Smit, Jan H., additional, Sul, Jae Hoon, additional, Androutsos, Christos, additional, Basha, Entela, additional, Farkas, Luca, additional, Fichna, Jakub, additional, Janik, Piotr, additional, Kapisyzi, Mira, additional, Karagiannidis, Iordanis, additional, Koumoula, Anastasia, additional, Nagy, Peter, additional, Puchala, Joanna, additional, Szejko, Natalia, additional, Szymanska, Urszula, additional, Tsironi, Vaia, additional, Apter, Alan, additional, Ball, Juliane, additional, Bodmer, Benjamin, additional, Bognar, Emese, additional, Buse, Judith, additional, Vela, Marta Correa, additional, Fremer, Carolin, additional, Garcia-Delgar, Blanca, additional, Gulisano, Mariangela, additional, Hagen, Annelieke, additional, Hagstrøm, Julie, additional, Madruga-Garrido, Marcos, additional, Pellico, Alessandra, additional, Ruhrman, Daphna, additional, Schnell, Jaana, additional, Silvestri, Paola Rosaria, additional, Skov, Liselotte, additional, Steinberg, Tamar, additional, Gloor, Friederike Tagwerker, additional, Turner, Victoria L., additional, Weidinger, Elif, additional, Alexander, John, additional, Aranyi, Tamas, additional, Buisman, Wim R., additional, Buitelaar, Jan K., additional, Driessen, Nicole, additional, Drineas, Petros, additional, Fan, Siyan, additional, Forde, Natalie J., additional, Gerasch, Sarah, additional, van den Heuvel, Odile A., additional, Jespersgaard, Cathrine, additional, Kanaan, Ahmad S., additional, Möller, Harald E., additional, Nawaz, Muhammad S., additional, Nespoli, Ester, additional, Pagliaroli, Luca, additional, Poelmans, Geert, additional, Pouwels, Petra J.W., additional, Rizzo, Francesca, additional, Veltman, Dick J., additional, van der Werf, Ysbrand D., additional, Widomska, Joanna, additional, Zilhäo, Nuno R., additional, Brown, Lawrence W., additional, Cheon, Keun-Ah, additional, Coffey, Barbara J., additional, Fernandez, Thomas V., additional, Gilbert, Donald L., additional, Hong, Hyun Ju, additional, Ibanez-Gomez, Laura, additional, Kim, Eun-Joo, additional, Kim, Young Key, additional, Kim, Young-Shin, additional, Koh, Yun-Joo, additional, Kook, Sodahm, additional, Kuperman, Samuel, additional, Leventhal, Bennett L., additional, Maras, Athanasios, additional, Murphy, Tara L., additional, Shin, Eun-Young, additional, Song, Dong-Ho, additional, Song, Jungeun, additional, State, Matthew W., additional, Visscher, Frank, additional, Wang, Sheng, additional, and Zinner, Samuel H., additional

Published
2023
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44. The impact of rare variation on gene expression across tissues

Author

Li, Xin, Kim, Yungil, Tsang, Emily K., Davis, Joe R., Damani, Farhan N., Chiang, Colby, Hess, Gaelen T., Zappala, Zachary, Strober, Benjamin J., Scott, Alexandra J., Li, Amy, Ganna, Andrea, Bassik, Michael C., Merker, Jason D., Aguet, Franois, Ardlie, Kristin G., Cummings, Beryl B., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Karczewski, Konrad J., Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Nedzel, Jared L., Nguyen, Duyen T., Noble, Michael S., Segr, Ayellet V., Trowbridge, Casandra A., Tukiainen, Taru, Abell, Nathan S., Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K., Brown, Andrew, Brown, Christopher D., Castel, Stephane E., Chen, Lin S., Conrad, Donald F., Cox, Nancy J., Delaneau, Olivier, Dermitzakis, Emmanouil T., Engelhardt, Barbara E., Eskin, Eleazar, Ferreira, Pedro G., Frsard, Laure, Gamazon, Eric R., Garrido-Martn, Diego, Gewirtz, Ariel D.H., Gliner, Genna, Gloudemans, Michael J., Guigo, Roderic, Hall, Ira M., Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Kyung Im, Hae, Jo, Brian, Yong Kang, Eun, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I., McDowell, Ian C., Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B., Muoz-Aguirre, Manuel, Ndungu, Anne W., Nicolae, Dan L., Nobel, Andrew B., Oliva, Meritxell, Ongen, Halit, Palowitch, John J., Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J., Peterson, Christine B., Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Shabalin, Andrey A., Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E., Sul, Jae Hoon, Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A., Xi, Hualin S., Yeger-Lotem, Esti, Zaugg, Judith B., Zhou, Yi-Hui, Akey, Joshua M., Bates, Daniel, Chan, Joanne, Claussnitzer, Melina, Demanelis, Kathryn, Diegel, Morgan, Doherty, Jennifer A., Feinberg, Andrew P., Fernando, Marian S., Halow, Jessica, Hansen, Kasper D., Haugen, Eric, Hickey, Peter F., Hou, Lei, Jasmine, Farzana, Jian, Ruiqi, Jiang, Lihua, Johnson, Audra, Kaul, Rajinder, Kellis, Manolis, Kibriya, Muhammad G., Lee, Kristen, Billy Li, Jin, Li, Qin, Lin, Jessica, Lin, Shin, Linder, Sandra, Linke, Caroline, Liu, Yaping, Maurano, Matthew T., Molinie, Benoit, Nelson, Jemma, Neri, Fidencio J., Park, Yongjin, Pierce, Brandon L., Rinaldi, Nicola J., Rizzardi, Lindsay F., Sandstrom, Richard, Skol, Andrew, Smith, Kevin S., Snyder, Michael P., Stamatoyannopoulos, John, Tang, Hua, Wang, Li, Wang, Meng, Van Wittenberghe, Nicholas, Wu, Fan, Zhang, Rui, Nierras, Concepcion R., Branton, Philip A., Carithers, Latarsha J., Guan, Ping, Moore, Helen M., Rao, Abhi, Vaught, Jimmie B., Gould, Sarah E., Lockart, Nicole C., Martin, Casey, Struewing, Jeffery P., Volpi, Simona, Addington, Anjene M., Koester, Susan E., Little, A. Roger, Brigham, Lori E., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Kopen, Gene, Leinweber, William F., Lonsdale, John T., McDonald, Alisa, Mestichelli, Bernadette, Myer, Kevin, Roe, Brian, Salvatore, Michael, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Bridge, Jason, Foster, Barbara A., Gillard, Bryan M., Karasik, Ellen, Kumar, Rachna, Miklos, Mark, Moser, Michael T., Jewell, Scott D., Montroy, Robert G., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Undale, Anita H., Smith, Anna M., Tabor, David E., Roche, Nancy V., McLean, Jeffrey A., Vatanian, Negin, Robinson, Karna L., Sobin, Leslie, Barcus, Mary E., Valentino, Kimberly M., Qi, Liqun, Hunter, Steven, Hariharan, Pushpa, Singh, Shilpi, Um, Ki Sung, Matose, Takunda, Tomaszewski, Maria M., Barker, Laura K., Mosavel, Maghboeba, Siminoff, Laura A., Traino, Heather M., Flicek, Paul, Juettemann, Thomas, Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Craft, Brian, Goldman, Mary, Haeussler, Maximilian, Kent, W. James, Lee, Christopher M., Paten, Benedict, Rosenbloom, Kate R., Vivian, John, and Zhu, Jingchun

Subjects
Disease susceptibility -- Genetic aspects, Genetic variation -- Observations, Gene expression -- Observations, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Xin Li [1]; Yungil Kim [2]; Emily K. Tsang [1, 3]; Joe R. Davis [1, 4]; Farhan N. Damani [2]; Colby Chiang [5]; Gaelen T. Hess [4]; Zachary Zappala [...]

Published
2017
Full Text
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45. Dynamic landscape and regulation of RNA editing in mammals

Author

Tan, Meng How, Li, Qin, Shanmugam, Raghuvaran, Piskol, Robert, Kohler, Jennefer, Young, Amy N., Liu, Kaiwen Ivy, Zhang, Rui, Ramaswami, Gokul, Ariyoshi, Kentaro, Gupte, Ankita, Keegan, Liam P., George, Cyril X., Ramu, Avinash, Huang, Ni, Pollina, Elizabeth A., Leeman, Dena S., Rustighi, Alessandra, Goh, Y. P. Sharon, Aguet, Franois, Ardlie, Kristin G., Cummings, Beryl B., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Karczewski, Konrad J., Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Nedzel, Jared L., Nguyen, Duyen T., Noble, Michael S., Segr, Ayellet V., Trowbridge, Casandra A., Tukiainen, Taru, Abell, Nathan S., Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K., Brown, Andrew, Brown, Christopher D., Castel, Stephane E., Chen, Lin S., Chiang, Colby, Conrad, Donald F., Cox, Nancy J., Damani, Farhan N., Davis, Joe R., Delaneau, Olivier, Dermitzakis, Emmanouil T., Engelhardt, Barbara E., Eskin, Eleazar, Ferreira, Pedro G., Frsard, Laure, Gamazon, Eric R., Garrido-Martn, Diego, Gewirtz, Ariel D. H., Gliner, Genna, Gloudemans, Michael J., Guigo, Roderic, Hall, Ira M., Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Kyung Im, Hae, Jo, Brian, Yong Kang, Eun, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I., McDowell, Ian C., Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B., Muoz-Aguirre, Manuel, Ndungu, Anne W., Nicolae, Dan L., Nobel, Andrew B., Oliva, Meritxell, Ongen, Halit, Palowitch, John J., Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J., Peterson, Christine B., Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J., Shabalin, Andrey A., Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E., Strober, Benjamin J., Sul, Jae Hoon, Tsang, Emily K., Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A., Xi, Hualin S., Yeger-Lotem, Esti, Zappala, Zachary, Zaugg, Judith B., Zhou, Yi-Hui, Akey, Joshua M., Bates, Daniel, Chan, Joanne, Claussnitzer, Melina, Demanelis, Kathryn, Diegel, Morgan, Doherty, Jennifer A., Feinberg, Andrew P., Fernando, Marian S., Halow, Jessica, Hansen, Kasper D., Haugen, Eric, Hickey, Peter F., Hou, Lei, Jasmine, Farzana, Jian, Ruiqi, Jiang, Lihua, Johnson, Audra, Kaul, Rajinder, Kellis, Manolis, Kibriya, Muhammad G., Lee, Kristen, Li, Jin Billy, Lin, Jessica, Lin, Shin, Linder, Sandra, Linke, Caroline, Liu, Yaping, Maurano, Matthew T., Molinie, Benoit, Nelson, Jemma, Neri, Fidencio J., Park, Yongjin, Pierce, Brandon L., Rinaldi, Nicola J., Rizzardi, Lindsay F., Sandstrom, Richard, Skol, Andrew, Smith, Kevin S., Snyder, Michael P., Stamatoyannopoulos, John, Tang, Hua, Wang, Li, Wang, Meng, Van Wittenberghe, Nicholas, Wu, Fan, Nierras, Concepcion R., Branton, Philip A., Carithers, Latarsha J., Guan, Ping, Moore, Helen M., Rao, Abhi, Vaught, Jimmie B., Gould, Sarah E., Lockart, Nicole C., Martin, Casey, Struewing, Jeffery P., Volpi, Simona, Addington, Anjene M., Koester, Susan E., Little, A. Roger, Brigham, Lori E., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Kopen, Gene, Leinweber, William F., Lonsdale, John T., McDonald, Alisa, Mestichelli, Bernadette, Myer, Kevin, Roe, Brian, Salvatore, Michael, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Bridge, Jason, Foster, Barbara A., Gillard, Bryan M., Karasik, Ellen, Kumar, Rachna, Miklos, Mark, Moser, Michael T., Jewell, Scott D., Montroy, Robert G., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Undale, Anita H., Smith, Anna M., Tabor, David E., Roche, Nancy V., McLean, Jeffrey A., Vatanian, Negin, Robinson, Karna L., Sobin, Leslie, Barcus, Mary E., Valentino, Kimberly M., Qi, Liqun, Hunter, Steven, Hariharan, Pushpa, Singh, Shilpi, Um, Ki Sung, Matose, Takunda, Tomaszewski, Maria M., Barker, Laura K., Mosavel, Maghboeba, Siminoff, Laura A., Traino, Heather M., Flicek, Paul, Juettemann, Thomas, Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Craft, Brian, Goldman, Mary, Haeussler, Maximilian, Kent, W. James, Lee, Christopher M., Paten, Benedict, Rosenbloom, Kate R., Vivian, John, Zhu, Jingchun, Chawla, Ajay, Del Sal, Giannino, Peltz, Gary, Brunet, Anne, Samuel, Charles E., OConnell, Mary A., Walkley, Carl R., and Nishikura, Kazuko

Subjects
Genetic research, Mammals -- Genetic aspects, RNA processing -- Research, Genetic regulation, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Meng How Tan (corresponding author) [1, 2, 3]; Qin Li [1]; Raghuvaran Shanmugam [2, 3]; Robert Piskol [1]; Jennefer Kohler [1]; Amy N. Young [1]; Kaiwen Ivy Liu [3]; [...]

Published
2017
Full Text
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46. Landscape of X chromosome inactivation across human tissues

Author

Tukiainen, Taru, Villani, Alexandra-Chlo, Yen, Angela, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, Franois, Byrnes, Andrea, Ardlie, Kristin G., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Nedzel, Jared L., Nguyen, Duyen T., Noble, Michael S., Segr, Ayellet V., Trowbridge, Casandra A., Abell, Nathan S., Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K., Brown, Andrew, Brown, Christopher D., Chen, Lin S., Chiang, Colby, Conrad, Donald F., Cox, Nancy J., Damani, Farhan N., Davis, Joe R., Delaneau, Olivier, Dermitzakis, Emmanouil T., Engelhardt, Barbara E., Eskin, Eleazar, Ferreira, Pedro G., Frsard, Laure, Gamazon, Eric R., Garrido-Martn, Diego, Gewirtz, Ariel D. H., Gliner, Genna, Gloudemans, Michael J., Guigo, Roderic, Hall, Ira M., Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Kyung Im, Hae, Jo, Brian, Yong Kang, Eun, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I., McDowell, Ian C., Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B., Muoz-Aguirre, Manuel, Ndungu, Anne W., Nicolae, Dan L., Nobel, Andrew B., Oliva, Meritxell, Ongen, Halit, Palowitch, John J., Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J., Peterson, Christine B., Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J., Shabalin, Andrey A., Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E., Strober, Benjamin J., Sul, Jae Hoon, Tsang, Emily K., Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A., Xi, Hualin S., Yeger-Lotem, Esti, Zappala, Zachary, Zaugg, Judith B., Zhou, Yi-Hui, Akey, Joshua M., Bates, Daniel, Chan, Joanne, Claussnitzer, Melina, Demanelis, Kathryn, Diegel, Morgan, Doherty, Jennifer A., Feinberg, Andrew P., Fernando, Marian S., Halow, Jessica, Hansen, Kasper D., Haugen, Eric, Hickey, Peter F., Hou, Lei, Jasmine, Farzana, Jian, Ruiqi, Jiang, Lihua, Johnson, Audra, Kaul, Rajinder, Kellis, Manolis, Kibriya, Muhammad G., Lee, Kristen, Li, Jin Billy, Li, Qin, Lin, Jessica, Lin, Shin, Linder, Sandra, Linke, Caroline, Liu, Yaping, Maurano, Matthew T., Molinie, Benoit, Nelson, Jemma, Neri, Fidencio J., Park, Yongjin, Pierce, Brandon L., Rinaldi, Nicola J., Rizzardi, Lindsay F., Sandstrom, Richard, Skol, Andrew, Smith, Kevin S., Snyder, Michael P., Stamatoyannopoulos, John, Tang, Hua, Wang, Li, Wang, Meng, Van Wittenberghe, Nicholas, Wu, Fan, Zhang, Rui, Nierras, Concepcion R., Branton, Philip A., Carithers, Latarsha J., Guan, Ping, Moore, Helen M., Rao, Abhi, Vaught, Jimmie B., Gould, Sarah E., Lockart, Nicole C., Martin, Casey, Struewing, Jeffery P., Volpi, Simona, Addington, Anjene M., Koester, Susan E., Little, A. Roger, Brigham, Lori E., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Kopen, Gene, Leinweber, William F., Lonsdale, John T., McDonald, Alisa, Mestichelli, Bernadette, Myer, Kevin, Roe, Brian, Salvatore, Michael, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Bridge, Jason, Foster, Barbara A., Gillard, Bryan M., Karasik, Ellen, Kumar, Rachna, Miklos, Mark, Moser, Michael T., Jewell, Scott D., Montroy, Robert G., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Undale, Anita H., Smith, Anna M., Tabor, David E., Roche, Nancy V., McLean, Jeffrey A., Vatanian, Negin, Robinson, Karna L., Sobin, Leslie, Barcus, Mary E., Valentino, Kimberly M., Qi, Liqun, Hunter, Steven, Hariharan, Pushpa, Singh, Shilpi, Um, Ki Sung, Matose, Takunda, Tomaszewski, Maria M., Barker, Laura K., Mosavel, Maghboeba, Siminoff, Laura A., Traino, Heather M., Flicek, Paul, Juettemann, Thomas, Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Craft, Brian, Goldman, Mary, Haeussler, Maximilian, Kent, W. James, Lee, Christopher M., Paten, Benedict, Rosenbloom, Kate R., Vivian, John, Zhu, Jingchun, Regev, Aviv, and Hacohen, Nir

Subjects
Chromosomes -- Physiological aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Taru Tukiainen (corresponding author) [1, 2]; Alexandra-Chlo Villani [2, 3]; Angela Yen [2, 4]; Manuel A. Rivas [1, 2, 5]; Jamie L. Marshall [1, 2]; Rahul Satija [2, 6, [...]

Published
2017
Full Text
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48. FORGEdb: systematic analysis of candidate causal variants to uncover target genes and mechanisms in complex traits

Author

Breeze, Charles E., primary, Haugen, Eric, additional, Gutierrez-Arcelus, María, additional, Yao, Xiaozheng, additional, Teschendorff, Andrew, additional, Beck, Stephan, additional, Dunham, Ian, additional, Stamatoyannopoulos, John, additional, Franceschini, Nora, additional, Machiela, Mitchell J., additional, and Berndt, Sonja I., additional

Published
2022
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50. The diverse genetic origins of a Classical period Greek army

Author

Reitsema, Laurie J., primary, Mittnik, Alissa, additional, Kyle, Britney, additional, Catalano, Giulio, additional, Fabbri, Pier Francesco, additional, Kazmi, Adam C. S., additional, Reinberger, Katherine L., additional, Sineo, Luca, additional, Vassallo, Stefano, additional, Bernardos, Rebecca, additional, Broomandkhoshbacht, Nasreen, additional, Callan, Kim, additional, Candilio, Francesca, additional, Cheronet, Olivia, additional, Curtis, Elizabeth, additional, Fernandes, Daniel, additional, Lari, Martina, additional, Lawson, Ann Marie, additional, Mah, Matthew, additional, Mallick, Swapan, additional, Mandl, Kirsten, additional, Micco, Adam, additional, Modi, Alessandra, additional, Oppenheimer, Jonas, additional, Özdogan, Kadir Toykan, additional, Rohland, Nadin, additional, Stewardson, Kristin, additional, Vai, Stefania, additional, Vergata, Chiara, additional, Workman, J. Noah, additional, Zalzala, Fatma, additional, Zaro, Valentina, additional, Achilli, Alessandro, additional, Anagnostopoulos, Achilles, additional, Capelli, Cristian, additional, Constantinou, Varnavas, additional, Lancioni, Hovirag, additional, Olivieri, Anna, additional, Papadopoulou, Anastasia, additional, Psatha, Nikoleta, additional, Semino, Ornella, additional, Stamatoyannopoulos, John, additional, Valliannou, Ioanna, additional, Yannaki, Evangelia, additional, Lazaridis, Iosif, additional, Patterson, Nick, additional, Ringbauer, Harald, additional, Caramelli, David, additional, Pinhasi, Ron, additional, and Reich, David, additional

Published
2022
Full Text
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