The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
Name
nihms712356.pdf
Description
Accepted version
Size
4.13 MB
Format
Adobe PDF
Checksum (MD5)
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Author(s)
Ward, Lucas D.
Kheradpour, Pouya
Iriarte, Benjamin
Kamvysselis, Manolis
Date Issued
May 2015
Journal
Science
Publisher
American Association for the Advancement of Science (AAAS)
Citation
GTEx Consortium. "The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans." Science 348, 6235 (May 2015): 648-660 © 2015 American Association for the Advancement of Science
Version
Author's final manuscript
Abstract
Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine. We present an analysis of RNA sequencing data from 1641 samples across 43 tissues from 175 individuals, generated as part of the pilot phase of the Genotype-Tissue Expression (GTEx) project. We describe the landscape of gene expression across tissues, catalog thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants, describe complex network relationships, and identify signals from genome-wide association studies explained by eQTLs. These findings provide a systematic understanding of the cellular and biological consequences of human genetic variation and of the heterogeneity of such effects among a diverse set of human tissues.
MIT Department
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
Terms of Use
Article is made available in accordance with the publisher's policy and may be subject to US copyright law. Please refer to the publisher's site for terms of use.
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DOI of Published Version
https://doi.org/10.1126/SCIENCE.1262110
