The Genotype-Tissue Expression (GTEx) project.

Abstract

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.

Keywords

Affiliated Institutions

• Einstein Medical Center Philadelphia US
• University of Miami US
• Phoenix (United States) US
• Harvard University US
• University of Chicago US
• Van Andel Institute US
• Palo Alto University US
• Stanford University US
• Virginia Commonwealth University US
• University of Geneva CH
• Drexel University US
• Centre for Genomic Regulation ES
• University of Oxford GB
• Broad Institute US
• Lifenet Health US
• Icahn School of Medicine at Mount Sinai US
• University of North Carolina at Chapel Hill US
• Roswell Park Comprehensive Cancer Center US
• Gift of Life Michigan US
• Science Applications International Corporation (United States) US
• National Center for Biotechnology Information US
• National Institutes of Health US

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