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

The GTEx Consortium

Research output: Contribution to journalArticle

1724 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)648-660
Number of pages13
JournalScience
Volume348
Issue number6235
DOIs
StatePublished - May 8 2015
Externally publishedYes

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Genotype
Genes
RNA Sequence Analysis
Genetic Heterogeneity
Quantitative Trait Loci
Genome-Wide Association Study
Medical Genetics
Gene Expression

ASJC Scopus subject areas

  • General

Cite this

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

In: Science, Vol. 348, No. 6235, 08.05.2015, p. 648-660.

Research output: Contribution to journalArticle

The GTEx Consortium. / The Genotype-Tissue Expression (GTEx) pilot analysis : Multitissue gene regulation in humans. In: Science. 2015 ; Vol. 348, No. 6235. pp. 648-660.
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