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 is also examining how gene expression varies between male and female. 

Previously, large genetic studies identified variants that are associated with human diseases. However, it is less clear how these variants affect gene expression and thereby contribute to human diseases. To provide insight into how genes are expressed differently across the body and how they are regulated, the Common Fund started the GTEx program in 2010. The GTEx portal that provides access to GTEx resources was launched in 2013. The GTEx data resource includes whole-genome sequence and RNA-sequence from ~960 deceased adult donors, with multiple tissue samples collected per donor (e.g. lung, brain, pancreas, skin, etc.). It also features an image library of the tissue samples, and a form to request tissue samples.

The GTEx data is 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. GTEx resources are valuable tools for exploring the genetic basis of complex human diseases.

Watch a video on the GTEx project for more details. 




This page last reviewed on June 11, 2021