title: 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.
authors.affiliation: National Disease Research Interchange, Philadelphia, Pennsylvania, USA.
mesh_terms: D015975:Consensus Development Conferences, NIH as Topic; D015870:Gene Expression; D020869:Gene Expression Profiling; D055106:Genome-Wide Association Study; D006078:Government Programs / Q000941:ethics / Q000331:legislation & jurisprudence*; D006801:Humans; D058977:Molecular Sequence Annotation; D009928:Organ Specificity; D040641:Quantitative Trait Loci; D014015:Tissue Banks; D014481:United States