On Oct. 11, 2017, researchers funded by the National Institutes of Health (NIH) announced they had  completed a detailed atlas documenting the stretches of human DNA that influence gene expression – a key way in which a person’s genome gives rise to an observable trait, like hair color or disease risk. The atlas is the culmination of work from the Genotype-Tissue Expression (GTEx) Consortium, established to catalog how genomic variation influences how genes are turned off and on.

“GTEx was unique because its researchers explored how genomic variation affects the expression of genes in individual tissues, across many individuals, and even within an individual,” said Simona Volpi, Ph.D. , program director for GTEx at the National Human Genome Research Institute (NHGRI), who oversaw various parts of the project.

Researchers involved in the GTEx Consortium collected data from more than 53 different tissue types (including brain, liver and lung) from autopsy, organ donation and tissue transplant programs. These tissues came from a approximately 960 donors in total.

The project continues to house a biobank of collected tissue samples, as well as extracted DNA and RNA for future studies by independent researchers. The summary-level data are available to the public through the GTEx Portal, and the most recent release of the raw data has been submitted to the Database of Genotypes and Phenotypes (dbGaP), an archive of results from studies that investigate the genomic contributions to phenotypes (physical characteristics or disease states).

GTEx launched in 2010 and concluded in the summer of 2017. It was supported by the NIH Common Fund and administered by NHGRI, NIMH and the National Cancer Institute (NCI), all part of NIH.