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a catalog of biological databases

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Database information

GTEx (Genotype-Tissue Expression )

General information

Description: GTEx established a data resource and tissue bank to study the relationship between genetic variation and gene expression in multiple human tissues. This release includes genotype data from approximately 714 donors and approximately 11688 RNA-seq samples across 53 tissue sites and 2 cell lines, with adequate power to detect Expression Quantitative Trait Loci in 48 tissues.
Year founded: 2013
Last update: 2019-7-24
Version: v8
Real time : Checking...
Country/Region: United States
Data type:
Data object:
Database category:
Major organism:

Contact information

University/Institution: Broad Institute
Address: 9000 Rockville Pike, Bethesda, Maryland 20892
City: Bethesda
Province/State: Maryland
Country/Region: United States
Contact name (PI/Team): GTEx consortium
Contact email (PI/Helpdesk):

Record metadata

Created on: 2019-07-30
Curated by:
Lina Ma [2019-07-31]
Lina Ma [2019-07-30]


All databases:
14/4692 (99.723%)
Genotype phenotype and variation:
5/635 (99.37%)
2/843 (99.881%)
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GTEx project maps wide range of normal human genetic variation: A unique catalog and follow-up effort associate variation with gene expression across dozens of body tissues. [PMID: 29334591]
Am J Med Genet A. 2018:176(2) | 1 Citations (from Europe PMC, 2020-09-12)
Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease. [PMID: 29019975]
eGTEx Project.

Genetic variants have been associated with myriad molecular phenotypes that provide new insight into the range of mechanisms underlying genetic traits and diseases. Identifying any particular genetic variant's cascade of effects, from molecule to individual, requires assaying multiple layers of molecular complexity. We introduce the Enhancing GTEx (eGTEx) project that extends the GTEx project to combine gene expression with additional intermediate molecular measurements on the same tissues to provide a resource for studying how genetic differences cascade through molecular phenotypes to impact human health.

Nat Genet. 2017:49(12) | 43 Citations (from Europe PMC, 2020-09-12)
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. [PMID: 25954001]
GTEx Consortium.

Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine. We present an analysis of RNA sequencing data from 1641 samples across 43 tissues from 175 individuals, generated as part of the pilot phase of the Genotype-Tissue Expression (GTEx) project. We describe the landscape of gene expression across tissues, catalog thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants, describe complex network relationships, and identify signals from genome-wide association studies explained by eQTLs. These findings provide a systematic understanding of the cellular and biological consequences of human genetic variation and of the heterogeneity of such effects among a diverse set of human tissues.

Science. 2015:348(6235) | 1657 Citations (from Europe PMC, 2020-09-12)
Human genomics. The human transcriptome across tissues and individuals. [PMID: 25954002]
Melé M, Ferreira PG, Reverter F, DeLuca DS, Monlong J, Sammeth M, Young TR, Goldmann JM, Pervouchine DD, Sullivan TJ, Johnson R, Segrè AV, Djebali S, Niarchou A, GTEx Consortium, Wright FA, Lappalainen T, Calvo M, Getz G, Dermitzakis ET, Ardlie KG, Guigó R.

Transcriptional regulation and posttranscriptional processing underlie many cellular and organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue Expression (GTEx) project to investigate the patterns of transcriptome variation across individuals and tissues. Tissues exhibit characteristic transcriptional signatures that show stability in postmortem samples. These signatures are dominated by a relatively small number of genes—which is most clearly seen in blood—though few are exclusive to a particular tissue and vary more across tissues than individuals. Genes exhibiting high interindividual expression variation include disease candidates associated with sex, ethnicity, and age. Primary transcription is the major driver of cellular specificity, with splicing playing mostly a complementary role; except for the brain, which exhibits a more divergent splicing program. Variation in splicing, despite its stochasticity, may play in contrast a comparatively greater role in defining individual phenotypes.

Science. 2015:348(6235) | 429 Citations (from Europe PMC, 2020-09-12)
A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project. [PMID: 26484571]
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, Segrè AV, Shive CE, Smith AM, Sobin LH, Undale AH, Valentino KM, Vaught J, Young TR, Moore HM, GTEx Consortium.

The Genotype-Tissue Expression (GTEx) project, sponsored by the NIH Common Fund, was established to study the correlation between human genetic variation and tissue-specific gene expression in non-diseased individuals. A significant challenge was the collection of high-quality biospecimens for extensive genomic analyses. Here we describe how a successful infrastructure for biospecimen procurement was developed and implemented by multiple research partners to support the prospective collection, annotation, and distribution of blood, tissues, and cell lines for the GTEx project. Other research projects can follow this model and form beneficial partnerships with rapid autopsy and organ procurement organizations to collect high quality biospecimens and associated clinical data for genomic studies. Biospecimens, clinical and genomic data, and Standard Operating Procedures guiding biospecimen collection for the GTEx project are available to the research community.

Biopreserv Biobank. 2015:13(5) | 177 Citations (from Europe PMC, 2020-09-12)
The Genotype-Tissue Expression (GTEx) project. [PMID: 23715323]
GTEx Consortium.

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.

Nat Genet. 2013:45(6) | 1843 Citations (from Europe PMC, 2020-09-12)