Program Snapshot

The Common Fund's Genotype-Tissue Expression (GTEx) Program established a data resource and tissue bank to study the relationship between genetic variants (inherited changes in DNA sequence) and gene expression (how genes are turned on and off) in multiple human tissues and across individuals. GTEx also increased our understanding of  how gene expression varies between male and female. 

The GTEx program has transitioned from Common Fund support. Common Fund programs are strategic investments that achieve a set of high-impact goals within a 5-10 year timeframe. At the conclusion of each program, deliverables will transition to other sources of support or use within the scientific community.

The GTEx program supported by the Common Fund from 2010 to 2019. Currently, GTEx data are widely used as a reference dataset to design new methods and tools, such as a statistical method called PrediXcan. This novel method is used to predict the expression of a gene using DNA sequence data. PrediXcan also predicts visible traits of diseases. GTEx researchers used this method to identify specific genes associated with five diseases: bipolar disorder, coronary artery disease, Crohn's disease, rheumatoid arthritis and type 1 diabetes. The GTEx’s final dataset (V8) contains DNA data from 838 postmortem donors and 17,382 RNA-seq across 54 tissue sites and two cell lines. GTEx data is accessible through the National Center for Biotechnology Information’s database of Genotypes and Phenotypes (dbGaP), the National Human Genome Research Institute's (NHGRI) Genomic Analysis and Visualization and Informatics Labspace (AnVIL) and GTEx Portal.  GTEx resources are valuable tools for exploring the impact of genetic variation on complex traits and diseases.

Highlights of the Genotype-Tissue Expression (GTEx) Program major accomplishments are:

  • Established a comprehensive catalog of genetics variants that effect gene expression across multiple tissue for the research community to evaluate tissue-specific gene expression and regulation in many different tissues. Genetic variants that influence how genes behave are called expression quantitative trait loci (eQTLs). Researchers are using GTEx data to enhance the functional interpretation of genome-wide association study (GWAS) findings from and identification of disease-relevant genes.
  • Created an online data resource (GTEx Portal) for storing, cataloging, searching, and sharing aggregated level data. Researchers used data from the GTEx Portal to publish over 7,000 papers.
  • GTEx data was integrated into genomics browsers including the UCSC Genome Browser and Ensembl to visualize gene and variant information. 
  • Developed a biobank of tissue biospecimens (e.g. lung, brain, pancreas, skin, etc) as well as RNA, DNA, blood samples and cell lines from ~960 donors. The GTEx biobank also features an image library of the tissue samples for researchers to browse the complete collection. These biospecimens are stored at the Broad Institute of Harvard and MIT. 

Please note that since the GTEx program is no longer supported by the Common Fund, the program website is being maintained as an archive and will not be updated on a regular basis. 

Watch a video on the GTEx project for more details. 




This page last reviewed on July 1, 2021