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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 publication

DOI

10.1126/science.1262110

Type

Journal article

Journal

Science

Publication Date

08/05/2015

Volume

348

Pages

648 - 660

Keywords

Alleles, Blood Pressure, Disease, GTPase-Activating Proteins, Gene Expression Regulation, Gene Regulatory Networks, Genetic Variation, Genome, Human, Genome-Wide Association Study, Genotype, Humans, Multigene Family, Organ Specificity, Pilot Projects, Quantitative Trait Loci, RNA Splicing, RNA, Untranslated, Sequence Analysis, RNA, Tibial Arteries, Transcriptome