The Genotype-Tissue Expression (GTEx) project.

Journal article

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.

Authors: GTEx Consortium

• Publication status: Published
• Journal: Nature genetics
• Volume: 45
• Issue: 6
• Pages: 580-585
• Publication date: 2013-06-01
• DOI: 10.1038/ng.2653
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: Government Programs; Consensus Development Conferences, NIH as Topic; GTEx Consortium; Organ Specificity; Genome-Wide Association Study; Humans; Gene Expression; Tissue Banks; Quantitative Trait Loci; Molecular Sequence Annotation; United States; Gene Expression Profiling