Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

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...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 2015-05, Vol.348 (6235), p.648
Main Author: GTEx Consortium
Format: Article
Language:English
Subjects:
Alleles
Blood Pressure - genetics
Disease - genetics
Gene Expression Regulation
Gene Regulatory Networks
Genetic Variation
Genome, Human - genetics
Genome-Wide Association Study
Genotype
GTPase-Activating Proteins - genetics
Humans
Multigene Family
Organ Specificity - genetics
Pilot Projects
Quantitative Trait Loci
RNA Splicing
RNA, Untranslated - genetics
Sequence Analysis, RNA
Tibial Arteries - metabolism
Transcriptome
Online Access:Get full text
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Summary: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.
ISSN:1095-9203
1095-9203
DOI:10.1126/science.1262110