The Genotype-Tissue Expression (GTEx) Project.

Abstract

This issue of Biopreservation and Biobanking highlights the work of the U.S. National Cancer Institute (NCI) and its partners in collecting high quality post-mortem biospecimens for a major National Institutes of Health (NIH) research program, the Genotype-Tissue Expression (GTEx) project.1 GTEx aims to evaluate the relationship between genetic variation and gene expression in normal human tissues and ultimately understand how this relationship contributes to disease susceptibility and development. GTEx planned to generate gene expression profiles from over 30 different non-diseased (normal) tissue types from hundreds of donors in order to make associations between disease phenotypes and SNPs identified in genome-wide association studies (GWAS). The data would be analyzed by the GTEx Consortium, an international group of investigators funded by the NIH. In the process, all of the data would be available to researchers through the National Center for Biotechnology Information's database of Genotypes and Phenotypes (dbGaP), and all residual biospecimens would be made available for research.