Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease

Nat Genet. 2017 Dec;49(12):1664-1670. doi: 10.1038/ng.3969. Epub 2017 Oct 11.


Genetic variants have been associated with myriad molecular phenotypes that provide new insight into the range of mechanisms underlying genetic traits and diseases. Identifying any particular genetic variant's cascade of effects, from molecule to individual, requires assaying multiple layers of molecular complexity. We introduce the Enhancing GTEx (eGTEx) project that extends the GTEx project to combine gene expression with additional intermediate molecular measurements on the same tissues to provide a resource for studying how genetic differences cascade through molecular phenotypes to impact human health.

MeSH terms

  • Disease / genetics*
  • Gene Expression Profiling / methods*
  • Genetic Association Studies / methods*
  • Genome-Wide Association Study / methods
  • Genomics / methods*
  • Genotype
  • Government Programs
  • Humans
  • Organ Specificity / genetics
  • Phenotype
  • Proteomics / methods*
  • United States