The Genotype-Tissue Expression (GTEx) project

Nat Genet. 2013 Jun;45(6):580-5. doi: 10.1038/ng.2653.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Consensus Development Conferences, NIH as Topic
  • Gene Expression
  • Gene Expression Profiling*
  • Genome-Wide Association Study*
  • Government Programs / ethics
  • Government Programs / legislation & jurisprudence*
  • Humans
  • Molecular Sequence Annotation
  • Organ Specificity
  • Quantitative Trait Loci
  • Tissue Banks
  • United States