Genotype-Tissue Expression Project (GTEX)

Launched by the National Institutes of Health (NIH) in September 2010, the Genotype-Tissue Expression (GTEx) Project created a resource that scientists can use to study how an individual’s genetic makeup affects tissue-specific gene expression. The end result was a database and a tissue bank that are available to researchers around the world.

VAI’s Pathology and Biorepository Core served as the caHUB Comprehensive Biospecimen Resource for the GTEx Project and provided biospecimen collection kit production, distribution and tracking, biospecimen receipt, handling and storage, and biospecimen processing (PAXgene processing and embedding, slide creation and digitization).

The GTEx collection phase has ended and the legacy specimens have been transferred to the Broad Institute for future distribution. For further information on this collection including access requests to legacy biospecimens, see the GTEx Portal.

Project-associated publications

GTEx Consortium. 2020. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369(6509):1318–1330.
*Part of special issue highlighting GTEx V8 data release. The Pathology and Biorepository Core serves as the Biospecimen Core Resource for GTEx.

Olivia M … Stranger BE. 2020. The impact of sex on gene expression across human tissues. Science 369(6509).
*Part of special issue highlighting GTEx V8 data release. The Pathology and Biorepository Core serves as the Biospecimen Core Resource for GTEx.

Kim-Hellmuth S … Lappalainen T. 2020. Cell type-specific genetic regulation of gene expression across human tissues. Science 369(6509).
*Part of special issue highlighting GTEx V8 data release. The Pathology and Biorepository Core serves as the Biospecimen Core Resource for GTEx.

Demanelis K … GTEx Consortium … Pierce BL. 2020. Determinants of telomere length across human tissues. Science 369(6509).
*Part of special issue highlighting GTEx V8 data release. The Pathology and Biorepository Core serves as the Biospecimen Core Resource for GTEx. 

Ferraro NM …GTEx Consortium … Battle A. 2020. Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369(6509).
*Part of special issue highlighting GTEx V8 data release. The Pathology and Biorepository Core serves as the Biospecimen Core Resource for GTEx.

GTEx Consortium. 2015. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science. 348(6235):648–660.
*Core contributions: Dana Valley, Dan Rohrer and Scott Jewell

Carithers LJ, Ardlie K, Barcus M, Branton PA, Britton A, Buia SA, Compton CC, DeLuca DS, Peter-Demchok J, Gelfand ET, Guan P, Korzeniewski GE, Lockhart NC, Rabiner CA, Rao AK, Robinson KL, Roche NV, Sawyer SJ, Segré A, Shive CE, Smith AM, Sobin LH, Undale AH, Valentino KM, Vaught J, Young TR, Moore HM, on behalf of the GTEx Consortium. 2015. A novel approach to high-quality post-mortem tissue procurement: The GTEx Program. Biopreserv Biobank 13(5):311–319.
*Core contributions: Dana Valley, Dan Rohrer and Scott Jewell

GTEx Consortium. 2013. The Genotype-Tissue Expression (GTEx) project. Nat Genet 45(6):580–585.
*Core contributions: Scott Jewell