The GTEx Consortium atlas of genetic regulatory effects across human tissues

Aguet, Francois; Barbeira, Alvaro N.; Bonazzola, Rodrigo; Brown, Andrew; Castel, Stephane E.; Jo, Brian; Kasela, Silva; Kim-Hellmuth, Sarah; Liang, Yanyu; Parsana, Princy; Flynn, Elise; Fresard, Laure; Gamazon, Eric R.; Hamel, Andrew R.; He, Yuan; Hormozdiari, Farhad; Mohammadi, Pejman; Munoz-Aguirre, Manuel; Ardlie, Kristin G.; Battle, Alexis; Bonazzola, Rodrigo; Brown, Christopher D.; Cox, Nancy; Dermitzakis, Emmanouil T.; Engelhardt, Barbara E.; Garrido-Martin, Diego; Gay, Nicole R.; Getz, Gad; Guigo, Roderic; Hamel, Andrew R.; Handsaker, Robert E.; He, Yuan; Hoffman, Paul J.; Hormozdiari, Farhad; Im, Hae Kyung; Jo, Brian; Kasela, Silva; Kashin, Seva; Kim-Hellmuth, Sarah; Kwong, Alan; Lappalainen, Tuuli; Li, Xiao; Liang, Yanyu; MacArthur, Daniel G.; Mohammadi, Pejman; Montgomery, Stephen B.; Munoz-Aguirre, Manuel; Rouhana, John M.; Hormozdiari, Farhad; Im, Hae Kyung; Kim-Hellmuth, Sarah; Ardlie, Kristin G.; Getz, Gad; Guigo, Roderic; Im, Hae Kyung; Lappalainen, Tuuli; Montgomery, Stephen B.; Im, Hae Kyung; Lappalainen, Tuuli; Lappalainen, Tuuli; Anand, Shankara; Gabriel, Stacey; Getz, Gad; Graubert, Aaron; Hadley, Kane; Handsaker, Robert E.; Huang, Katherine H.; Kashin, Seva; Li, Xiao; MacArthur, Daniel G.; Meier, Samuel R.; Nedzel, Jared L.; Balliu, Brunilda; Conrad, Don; Cotter, Daniel J.; Das, Sayantan; de Goede, Olivia M.; Eskin, Eleazar; Eulalio, Tiffany Y.; Ferraro, Nicole M.; Garrido-Martin, Diego; Gay, Nicole R.; Getz, Gad; Graubert, Aaron; Guigo, Roderic; Hadley, Kane; Hamel, Andrew R.; Handsaker, Robert E.; He, Yuan; Hoffman, Paul J.; Hormozdiari, Farhad; Hou, Lei; Huang, Katherine H.; Im, Hae Kyung; Jo, Brian; Kasela, Silva; Kashin, Seva; Kellis, Manolis; Kim-Hellmuth, Sarah; Kwong, Alan; Lappalainen, Tuuli; Li, Xiao; Li, Xin; Liang, Yanyu; MacArthur, Daniel G.; Mangul, Serghei; Meier, Samuel R.; Mohammadi, Pejman; Montgomery, Stephen B.; Munoz-Aguirre, Manuel; Nachun, Daniel C.; Nedzel, Jared L.; Nguyen, Duyen Y.; Nobel, Andrew B.; Park, YoSon; Reverter, Ferran; Sabatti, Chiara; Saha, Ashis; Segre V, Ayellet; Stephens, Matthew; Strober, Benjamin J.; Teran, Nicole A.; Todres, Ellen; Vinuela, Ana; Wang, Gao; Wen, Xiaoquan; Wright, Fred; Wucher, Valentin; Zou, Yuxin; Ferreira, Pedro G.; Li, Gen; Mele, Marta; Yeger-Lotem, Esti; Barcus, Mary E.; Bradbury, Debra; Krubit, Tanya; McLean, Jeffrey A.; Qi, Liqun; Robinson, Karna; Roche V, Nancy; 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.; 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.; Hou, Lei; Jasmine, Farzana; Jiang, Lihua; Kaul, Rajinder; Kellis, Manolis; Kibriya, Muhammad G.; Li, Jin Billy; Li, Qin; Lin, Shin; Linder, Sandra E.; Montgomery, Stephen B.; Oliva, Meritxell; Park, Yongjin; 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

doi:10.1126/science.aaz1776

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The GTEx Consortium atlas of genetic regulatory effects across human tissues

Aguet, F., Barbeira, A. N., Bonazzola, R., Brown, A., Castel, S. E., Jo, B., et al. (2020). The GTEx Consortium atlas of genetic regulatory effects across human tissues. SI, 369(6509), 1318-1330. doi:10.1126/science.aaz1776.

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Item Permalink: https://hdl.handle.net/21.11116/0000-0008-BC1E-4 Version Permalink: https://hdl.handle.net/21.11116/0000-0008-BC1F-3

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Aguet, Francois, Author
Barbeira, Alvaro N., Author
Bonazzola, Rodrigo, Author
Brown, Andrew, Author
Castel, Stephane E., Author
Jo, Brian, Author
Kasela, Silva, Author
Kim-Hellmuth, Sarah¹, Author
Liang, Yanyu, Author
Parsana, Princy, Author
Flynn, Elise, Author
Fresard, Laure, Author
Gamazon, Eric R., Author
Hamel, Andrew R., Author
He, Yuan, Author
Hormozdiari, Farhad, Author
Mohammadi, Pejman, Author
Munoz-Aguirre, Manuel, Author
Ardlie, Kristin G., Author
Battle, Alexis, Author
Bonazzola, Rodrigo, AuthorBrown, Christopher D., AuthorCox, Nancy, AuthorDermitzakis, Emmanouil T., AuthorEngelhardt, Barbara E., AuthorGarrido-Martin, Diego, AuthorGay, Nicole R., AuthorGetz, Gad, AuthorGuigo, Roderic, AuthorHamel, Andrew R., AuthorHandsaker, Robert E., AuthorHe, Yuan, AuthorHoffman, Paul J., AuthorHormozdiari, Farhad, AuthorIm, Hae Kyung, AuthorJo, Brian, AuthorKasela, Silva, AuthorKashin, Seva, AuthorKim-Hellmuth, Sarah¹, AuthorKwong, Alan, AuthorLappalainen, Tuuli, AuthorLi, Xiao, AuthorLiang, Yanyu, AuthorMacArthur, Daniel G., AuthorMohammadi, Pejman, AuthorMontgomery, Stephen B., AuthorMunoz-Aguirre, Manuel, AuthorRouhana, John M., AuthorHormozdiari, Farhad, AuthorIm, Hae Kyung, AuthorKim-Hellmuth, Sarah¹, AuthorArdlie, Kristin G., AuthorGetz, Gad, AuthorGuigo, Roderic, AuthorIm, Hae Kyung, AuthorLappalainen, Tuuli, AuthorMontgomery, Stephen B., AuthorIm, Hae Kyung, AuthorLappalainen, Tuuli, AuthorLappalainen, Tuuli, AuthorAnand, Shankara, AuthorGabriel, Stacey, AuthorGetz, Gad, AuthorGraubert, Aaron, AuthorHadley, Kane, AuthorHandsaker, Robert E., AuthorHuang, Katherine H., AuthorKashin, Seva, AuthorLi, Xiao, AuthorMacArthur, Daniel G., AuthorMeier, Samuel R., AuthorNedzel, Jared L., AuthorBalliu, Brunilda, AuthorConrad, Don, AuthorCotter, Daniel J., AuthorDas, Sayantan, Authorde Goede, Olivia M., AuthorEskin, Eleazar, AuthorEulalio, Tiffany Y., AuthorFerraro, Nicole M., AuthorGarrido-Martin, Diego, AuthorGay, Nicole R., AuthorGetz, Gad, AuthorGraubert, Aaron, AuthorGuigo, Roderic, AuthorHadley, Kane, AuthorHamel, Andrew R., AuthorHandsaker, Robert E., AuthorHe, Yuan, AuthorHoffman, Paul J., AuthorHormozdiari, Farhad, AuthorHou, Lei, AuthorHuang, Katherine H., AuthorIm, Hae Kyung, AuthorJo, Brian, AuthorKasela, Silva, AuthorKashin, Seva, AuthorKellis, Manolis, AuthorKim-Hellmuth, Sarah¹, AuthorKwong, Alan, AuthorLappalainen, Tuuli, AuthorLi, Xiao, AuthorLi, Xin, AuthorLiang, Yanyu, AuthorMacArthur, Daniel G., AuthorMangul, Serghei, AuthorMeier, Samuel R., AuthorMohammadi, Pejman, AuthorMontgomery, Stephen B., AuthorMunoz-Aguirre, Manuel, AuthorNachun, Daniel C., AuthorNedzel, Jared L., AuthorNguyen, Duyen Y., AuthorNobel, Andrew B., AuthorPark, YoSon, AuthorReverter, Ferran, AuthorSabatti, Chiara, AuthorSaha, Ashis, AuthorSegre V, Ayellet, AuthorStephens, Matthew, AuthorStrober, Benjamin J., AuthorTeran, Nicole A., AuthorTodres, Ellen, AuthorVinuela, Ana, AuthorWang, Gao, AuthorWen, Xiaoquan, AuthorWright, Fred, AuthorWucher, Valentin, AuthorZou, Yuxin, AuthorFerreira, Pedro G., AuthorLi, Gen, AuthorMele, Marta, AuthorYeger-Lotem, Esti, AuthorBarcus, Mary E., AuthorBradbury, Debra, AuthorKrubit, Tanya, AuthorMcLean, Jeffrey A., AuthorQi, Liqun, AuthorRobinson, Karna, AuthorRoche V, Nancy, AuthorSmith, Anna M., AuthorTabor, David E., AuthorUndale, Anita, AuthorBridge, Jason, AuthorBrigham, Lori E., AuthorFoster, Barbara A., AuthorGillard, Bryan M., AuthorHasz, Richard, AuthorHunter, Marcus, AuthorJohns, Christopher, AuthorJohnson, Mark, AuthorKarasik, Ellen, AuthorKopen, Gene, AuthorLeinweber, William F., AuthorMcDonald, Alisa, AuthorMoser, Michael T., AuthorMyer, Kevin, AuthorRamsey, Kimberley D., AuthorRoe, Brian, AuthorShad, Saboor, AuthorThomas, Jeffrey A., AuthorWalters, Gary, AuthorWashington, Michael, AuthorWheeler, Joseph, AuthorJewell, Scott D., AuthorRohrer, Daniel C., AuthorValley, Dana R., AuthorDavis, David A., AuthorMash, Deborah C., AuthorBranton, Philip A., AuthorSobin, Leslie, AuthorBarker, Laura K., AuthorGardiner, Heather M., AuthorMosavel, Maghboeba, AuthorSiminoff, Laura A., AuthorFlicek, Paul, AuthorHaeussler, Maximilian, AuthorJuettemann, Thomas, AuthorKent, W. James, AuthorLee, Christopher M., AuthorPowell, Conner C., AuthorRosenbloom, Kate R., AuthorRuffier, Magali, AuthorSheppard, Dan, AuthorTaylor, Kieron, AuthorTrevanion, Stephen J., AuthorZerbino, Daniel R., AuthorAbell, Nathan S., AuthorAkey, Joshua, AuthorChen, Lin, AuthorDemanelis, Kathryn, AuthorDoherty, Jennifer A., AuthorFeinberg, Andrew P., AuthorHansen, Kasper D., AuthorHickey, Peter F., AuthorHou, Lei, AuthorJasmine, Farzana, AuthorJiang, Lihua, AuthorKaul, Rajinder, AuthorKellis, Manolis, AuthorKibriya, Muhammad G., AuthorLi, Jin Billy, AuthorLi, Qin, AuthorLin, Shin, AuthorLinder, Sandra E., AuthorMontgomery, Stephen B., AuthorOliva, Meritxell, AuthorPark, Yongjin, AuthorPierce, Brandon L., AuthorRizzardi, Lindsay F., AuthorSkol, Andrew D., AuthorSmith, Kevin S., AuthorSnyder, Michael, AuthorStamatoyannopoulos, John, AuthorTang, Hua, AuthorWang, Meng, AuthorCarithers, Latarsha J., AuthorGuan, Ping, AuthorKoester, Susan E., AuthorLittle, A. Roger, AuthorMoore, Helen M., AuthorNierras, Concepcion R., AuthorRao, Abhi K., AuthorVaught, Jimmie B., AuthorVolpi, Simona, Author more..

Affiliations:
1RG Statistical Genetics, Max Planck Institute of Psychiatry, Max Planck Society, ou_2040288

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Free keywords: GENOME-WIDE ASSOCIATION; LINKAGE DISEQUILIBRIUM; RNA-SEQ; CANCER SUSCEPTIBILITY; ALLELIC HETEROGENEITY; CAUSAL VARIANTS; COMPLEX TRAITS; TRANS-EQTLS; EXPRESSION; LOCIScience & Technology - Other Topics;

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 tissue specificity of genetic effects and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.

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Language(s): eng - English

Dates: Date issued: 2020

Publication Status: Issued

Pages: 113

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Identifiers: ISI: 000569840300041
DOI: 10.1126/science.aaz1776

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Title: SI

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Publ. Info: 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA : AMER ASSOC ADVANCEMENT SCIENCE

Pages: - Volume / Issue: 369 (6509) Sequence Number: - Start / End Page: 1318 - 1330 Identifier: ISSN: 0036-8075

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Title: SCIENCE

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Alternative Title : Science

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Pages: - Volume / Issue: 369 Sequence Number: - Start / End Page: - Identifier: -