The GTEx Consortium atlas of genetic regulatory effects across human tissues

Aguet, François; Anand, Shankara; Ardlie, Kristin; Gabriel, Stacey; Getz, Gad; Graubert, Aaron; Hadley, Kane; Handsaker, Robert E.; Huang, Katherine; Kashin, Seva; Li, Xiao; MacArthur, Daniel G.; Meier, Samuel R.; Nedzel, Jared L.; Nguyen, Duyen T.; Segrè, Ayellet V.; Todres, Ellen; Balliu, Brunilda; Barbeira, Alvaro; Battle, Alexis; Bonazzola, Rodrigo; Brown, Andrew; Brown, Christopher; Castel, Stephane E.; Conrad, Donald F.; Cotter, Daniel J.; Cox, Nancy J.; Das, Sayantan; Goede, Olivia M. de; Dermitzakis, Emmanouil T.; Einson, Jonah; Engelhardt, Barbara E.; Eskin, Eleazar; Eulalio, Tiffany; Ferraro, Nicole M.; Flynn, Elise D.; Frésard, Laure; Gamazon, Eric R.; Garrido-Martín, Diego; Gay, Nicole R.; Gloudemans, Michael J.; Guigó, Roderic; Hame, Andrew R.; He, Yuan; Hoffman, Paul; 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; Nobel, Andrew B.; Oliva, Meritxell; Park, YoSon; Park, Yongjin; Parsana, Princy; Rao, Abhiram; Reverter, Ferrán; Rouhana, John M.; Sabatti, Chiara; Saha, Ashis; Stephens, Matthew; Stranger, Barbara E.; Strober, Benjamin J.; Teran, Nicole A.; Viñuela, Ana; Wang, Gao; Wen, Xiaoquan; Wright, Fred A.; 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; Smith, Anna Marie; Sobin, Leslie H.; Tabor, David E.; Undale, Anita H.; Bridge, Jason; Brigham, Lori E.; Foster, Barbara A.; Gillard, Bryan M.; Hasz, Richard; Hunter, Marcus; Johns, Christopher; Johnson, Mark P.; 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, J. Gary; 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 M.; 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, M; Stamatoyannopoulos, J; 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

doi:10.1126/science.aaz1776

articleScienceSep 10, 2020BRONZE OA

The GTEx Consortium atlas of genetic regulatory effects across human tissues

FAFrançois Aguet SAShankara Anand KAKristin Ardlie SGStacey Gabriel GGGad Getz

Massachusetts General Hospital · University of Chicago · +1 more institution

PubMed

Indexed incrossrefpubmed

Abstract

The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the…

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Topics & keywords

Topics

Keywords

Biology
Gene
RNA splicing
Genetic variation
Human genetic variation
Regulation of gene expression
Gene expression
Genetics

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