The GTEx Consortium atlas of genetic regulatory effects across human tissues
Top Cited Papers
- 11 September 2020
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 369 (6509), 1318-1330
- https://doi.org/10.1126/science.aaz1776
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.Funding Information
- National Institute of Mental Health
- National Human Genome Research Institute (5U41HG002371-19)
- NIH Office of the Director (R01 MH107666)
- NIH Office of the Director (P30 DK020595)
- NIH Office of the Director (HG002585)
- National Cancer Institute
- European Molecular Biology Laboratory
- NHGRI (R01 HG006855)
- leidos biomedical research (BOA No. 10XS1035)
- NIH/NIMH (R01MH101782)
- Swiss National Science Foundation
- NHGRI (R01 HG006855)
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