The Genotype-Tissue Expression (GTEx) project consortia, which includes scientists from the Centre for Genomic Regulation (CRG) in Barcelona, have now published their results from their first pilot study in three Science papers. These finding will contribute to a better understanding of genomic variation and give us new clues about disease susceptibility.
The GTEx resource is being developed in part to meet a growing scientific need. Scientists have used genome-wide association studies (GWAS) to study the roles that genomic variants play in disease. By comparing thousands of genomic variants in people with a disease to thousands without, they can associate genomic variants and regions in the genome with diseases. But these associations don’t necessarily explain what specific genomic variants do or how they might affect the biology and development of disease. “GTEx data allow us to ask questions about genetic variation and its effects on gene expression both in one tissue and across many tissues that we simply couldn’t ask before,” said Dr. Kristin Ardlie, director of the GTEx Laboratory Data Analysis Center at the Broad Institute (Harvard University and MIT, Cambridge, Massachusetts).