The Genotype-Tissue Expression (GTEx) project.

Why this mattered

TBD

Abstract

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.

Related

• cite → An integrated encyclopedia of DNA elements in the human genome — GTEx extends ENCODE's functional-genomics mapping by linking regulatory genomic annotations to tissue-specific gene expression and eQTL variation.
• enables → The GTEx Consortium atlas of genetic regulatory effects across human tissues — The 2013 GTEx project paper defined the tissue-donor resource and analysis goals that the 2020 atlas realized at full consortium scale.
• cite ← The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans — The GTEx pilot is the first multitissue analysis built from the GTEx project's tissue collection and genotype-expression study design.
• cite ← The GTEx Consortium atlas of genetic regulatory effects across human tissues — The GTEx atlas cites the 2013 GTEx project paper as the original design and rationale for systematically mapping human tissue-specific regulatory variation.

Sources

• DOI: https://doi.org/10.1038/ng.2653
• OpenAlex: https://openalex.org/W2018838463