화학공학소재연구정보센터
홈 로그인 로그아웃 연락처 사이트맵
Science, Vol.369, No.6509, 1318-1330, 2020
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The GTEx Consortium atlas of genetic regulatory effects across human tissues
Aguet F, Barbeira AN, Bonazzola R, Brown A, Castel SE, Jo B, Kasela S, Kim-Hellmuth S, Liang YY, Parsana P, Flynn E, Fresard L, Gamazon ER, Hamel AR, He Y, Hormozdiari F, Mohammadi P, Munoz-Aguirre M, Ardlie KG, Battle A, Bonazzola R, Brown CD, Cox N, Dermitzakis ET, Engelhardt BE, Garrido-Martin D, Gay NR, Getz G, Guigo R, Hamel AR, Handsaker RE, He Y, Hoffman PJ, Hormozdiari F, Im HK, Jo B, Kasela S, Kashin S, Kim-Hellmuth S, Kwong A, Lappalainen T, Li X, Liang YY, MacArthur DG, Mohammadi P, Montgomery SB, Munoz-Aguirre M, Rouhana JM, Hormozdiari F, Im HK, Kim-Hellmuth S, Ardlie KG, Getz G, Guigo R, Im HK, Lappalainen T, Montgomery SB, Im HK, Lappalainen T, Lappalainen T, Anand S, Gabriel S, Getz G, Graubert A, Hadley K, Handsaker RE, Huang KH, Kashin S, Li X, MacArthur DG, Meier SR, Nedzel JL, Balliu B, Conrad D, Cotter DJ, Das S, de Goede OM, Eskin E, Eulalio TY, Ferraro NM, Garrido-Martin D, Gay NR, Getz G, Graubert A, Guigo R, Hadley K, Hamel AR, Handsaker RE, He Y, Hoffman PJ, Hormozdiari F, Hou L, Huang KH, Im HK, Jo B, Kasela S, Kashin S, Kellis M, Kim-Hellmuth S, Kwong A, Lappalainen T, Li X, Li X, Liang YY, MacArthur DG, Mangul S, Meier SR, Mohammadi P, Montgomery SB, Munoz-Aguirre M, Nachun DC, Nedzel JL, Nguyen DY, Nobel AB, Park Y, Reverter F, Sabatti C, Saha A, Segre AV, Stephens M, Strober BJ, Teran NA, Todres E, Vinuela A, Wang G, Wen XQ, Wright F, Wucher V, Zou YX, Ferreira PG, Li G, Mele M, Yeger-Lotem E, Barcus ME, Bradbury D, Krubit T, McLean JA, Qi LQ, 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, Branton PA, 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 LH, Kaul R, Kellis M, Kibriya MG, Li JB, Li Q, Lin S, Linder SE, Montgomery SB, Oliva M, Park Y, Pierce BL, Rizzardi LF, Skol AD, Smith KS, Snyder M, Stamatoyannopoulos J, Tang H, Wang M, Carithers LJ, Guan P, Koester SE, Little AR, Moore HM, Nierras CR, Rao AK, Vaught JB, Volpi S
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.