The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

TitleThe Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
Publication TypeJournal Article
Year of Publication2015
AuthorsGTEx Consortium
JournalScience (New York, N.Y.)
Volume348
Pagination648–660
Date PublishedMay
ISSN1095-9203
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.

URLhttp://www.ncbi.nlm.nih.gov/pubmed/25954001
DOI10.1126/science.1262110