Acquisition of normal tissues for the GTEx program.

Abstract

In 2008, the U.S. National Cancer Institute (NCI) Biorepositories and Biospecimen Research Branch (BBRB; formerly known as OBBR) began a collaboration with the U.S. National Human Genome Research Institute, the National Institute of Mental Health, and other institutes and centers of the National Institutes of Health (NIH) to develop a new research program called GTEx, or Genotype-Tissue Expression. The goal of GTEx, a program funded by the NIH Common Fund, is to study human gene expression and regulation in multiple human tissues, providing valuable insights into the mechanisms of gene regulation and to better understand how genomic differences may contribute to disease. GTEx planned to analyze multiple human tissues from many different individuals, performing dense genotyping on each individual and analyzing RNA expression within each individual tissue. Genetic variation between individuals would be examined for correlation with differences in gene expression level in different tissues, to identify regions of the genome that influence whether and how much a gene is expressed. By treating the expression levels of genes as quantitative traits, variations in gene expression that are highly correlated with genetic variation could be identified as expression quantitative trait loci, or eQTLs. The GTEx program, notably, planned to make all of the resulting data publicly available, providing a unique and invaluable resource for follow on research.