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The GTEx Consortium atlas of genetic regulatory effects across human tissues

Lookup NU author(s): Dr Ana ViñuelaORCiD

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Abstract

© 2020 American Association for the Advancement of Science. All rights reserved.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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Author(s): Aguet F, Barbeira AN, Bonazzola R, Brown A, Castel SE, Jo B, Kasela S, Kim-Hellmuth S, Liang Y, Oliva M, Flynn ED, Parsana P, Fresard L, Gamazon ER, Hamel AR, He Y, Hormozdiari F, Mohammadi P, Muñoz-Aguirre M, Park Y, Saha A, Segrè AV, Strober BJ, Wen X, Wucher V, Ardlie KG, Battle A, Brown CD, Cox N, Das S, Dermitzakis ET, Engelhardt BE, Garrido-Martin D, Gay NR, Getz GA, Guigó R, Handsaker RE, Hoffman PJ, Im HK, Kashin S, Kwong A, Lappalainen T, Li X, MacArthur DG, Montgomery SB, Rouhana JM, Stephens M, Stranger BE, Todres E, Viñuela A, Wang G, Zou Y, Anand S, Gabriel S, Graubert A, Hadley K, Huang KH, Meier SR, Nedzel JL, Nguyen DT, Balliu B, Conrad DF, Cotter DJ, deGoede OM, Einson J, Eskin E, Eulalio TY, Ferraro NM, Gloudemans MJ, Hou L, Li X, Mangul S, Nachun DC, Nobel AB, Park Y, Rao AS, Reverter F, Sabatti C, Skol AD, Teran NA, Wright F, Ferreira PG, Li G, Mele M, Yeger-Lotem E, Barcus ME, Bradbury D, Krubit T, McLean JA, Qi L, Robinson K, Roche NV, Smith AM, Tabor DE, Undale A, Bridge J, Brigham LE, Foster BA, Gillard BM, Hasz R, Hunter M, Johns C, Johnson M, Karasik E, Kopen G, Leinweber WF, McDonald A, Moser MT, Myer K, Ramsey KD, Roe B, Shad S, Thomas JA, Walters G, Washington M, Wheeler J, Jewell SD, Rohrer DC, Valley DR, Davis DA, Mash DC, Sobin L, Sobin L, Barker LK, Gardiner HM, Mosavel M, Siminoff LA, Flicek P, Haeussler M, Juettemann T, Kent WJ, Lee CM, Powell CC, Rosenbloom KR, Ruffier M, Sheppard D, Taylor K, Trevanion SJ, Zerbino DR, Abell NS, Akey J, Chen L, Demanelis K, Doherty JA, Feinberg AP, Hansen KD, Hickey PF, Hou L, Jasmine F, Jiang L, Kaul R, Kellis M, Kellis M, Kibriya MG, Li JB, Li Q, Lin S, Linder SE, Pierce BL, Rizzardi LF, Smith KS, Snyder M, Stamatoyannopoulos J, Tang H, Wang M, Branton PA, Branton PA, Carithers LJ, Guan P, Koester SE, Little AR, Moore HM, Nierras CR, Rao AK, Vaught JB, Volpi S

Publication type: Article

Publication status: Published

Journal: Science

Year: 2020

Volume: 369

Issue: 6509

Pages: 1318-1330

Online publication date: 11/09/2020

Acceptance date: 30/07/2020

ISSN (print): 0036-8075

ISSN (electronic): 1095-9203

Publisher: American Association for the Advancement of Science

URL: . https://doi.org/10.1126/science.aaz1776

DOI: 10.1126/SCIENCE.AAZ1776

PubMed id: 32913098

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