Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this variation on the regulation of gene expression. Furthermore, only a few tissues have been examined per genetic variant. In order to examine how genetic expression varies among tissues within individuals, the Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative genetic traits that affect gene expression and determined which of these exhibit tissue-specific expression patterns.
The GTEx pilot phase includes samples from 175 next-of-kin consented adult post-mortem donors. High-throughput RNA sequencing (RNA-seq) data are available for samples from 43 tissues, with an average of 28 tissue samples collected per individual from 54 body sites. These initial publications focused primarily on RNA-seq data from 9 tissues (adipose, tibial artery, heart, lung, muscle, tibial nerve, skin, thyroid and whole blood), for which there were ≥80 samples available, providing sufficient power for cis-eQTL detection.
Melé et al. measured how transcription varies among tissues, and Rivas et al. looked at how truncated protein variants affect expression across tissues.
The GTEx Consortium. (2015) The Genotype–Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348, 648–660. [article]
Melé, M. et al. (2015) The human transcriptome across tissues and individuals. Science 348, 660–665. [article]
Rivas, M. A. et al. (2015) Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 348, 666–669. [article]