TY - JOUR
T1 - The GTEx Consortium atlas of genetic regulatory effects across human tissues
AU - The GTEx Consortium
AU - Aguet, François
AU - Barbeira, Alvaro N.
AU - Bonazzola, Rodrigo
AU - Brown, Andrew
AU - Castel, Stephane E.
AU - Jo, Brian
AU - Kasela, Silva
AU - Kim-Hellmuth, Sarah
AU - Liang, Yanyu
AU - Oliva, Meritxell
AU - Flynn, Elise D.
AU - Parsana, Princy
AU - Fresard, Laure
AU - Gamazon, Eric R.
AU - Hamel, Andrew R.
AU - He, Yuan
AU - Hormozdiari, Farhad
AU - Mohammadi, Pejman
AU - Muñoz-Aguirre, Manuel
AU - Park, Yo Son
AU - Saha, Ashis
AU - Segrè, Ayellet V.
AU - Strober, Benjamin J.
AU - Wen, Xiaoquan
AU - Wucher, Valentin
AU - Ardlie, Kristin G.
AU - Battle, Alexis
AU - Brown, Christopher D.
AU - Cox, Nancy
AU - Das, Sayantan
AU - Dermitzakis, Emmanouil T.
AU - Engelhardt, Barbara E.
AU - Garrido-Martín, Diego
AU - Gay, Nicole R.
AU - Getz, Gad A.
AU - Guigó, Roderic
AU - Handsaker, Robert E.
AU - Hoffman, Paul J.
AU - Im, Hae Kyung
AU - Kashin, Seva
AU - Kwong, Alan
AU - Lappalainen, Tuuli
AU - Li, Xiao
AU - MacArthur, Daniel G.
AU - Montgomery, Stephen B.
AU - Rouhana, John M.
AU - Stephens, Matthew
AU - Stranger, Barbara E.
AU - Feinberg, Andrew P.
AU - Hansen, Kasper D.
N1 - Publisher Copyright:
© 2020 American Association for the Advancement of Science. All rights reserved.
PY - 2020/9/1
Y1 - 2020/9/1
N2 - 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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=85090818998&partnerID=8YFLogxK
U2 - 10.1126/SCIENCE.AAZ1776
DO - 10.1126/SCIENCE.AAZ1776
M3 - Article
C2 - 32913098
AN - SCOPUS:85090818998
SN - 0036-8075
VL - 369
SP - 1318
EP - 1330
JO - Science
JF - Science
IS - 6509
ER -