The human transcriptome across tissues and individuals

TLDR

Human genomes exhibit extensive genetic variation, yet the impact of this variation on gene expression across tissues remains largely undocumented, with few tissues examined per variant. The study aims to investigate how genetic expression varies among tissues within individuals. To do so, the GTEx Consortium collected 1,641 postmortem samples from 54 body sites of 175 individuals, measured transcriptional variation across tissues, and examined the influence of truncated protein variants on expression. The analysis identified quantitative genetic traits influencing gene expression and revealed which traits display tissue‑specific expression patterns. Melé et al., Science, 2015, pp.

Abstract

Expression, genetic variation, and tissues 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. Melé et al. measured how transcription varies among tissues, and Rivas et al. looked at how truncated protein variants affect expression across tissues. Science , this issue p. 648 , p. 660 , p. 666 ; see also p. 640