21 d’octubre 2020

Mapping genetic regulation

The GTEx Consortium atlas of genetic regulatory effects across human tissues

A great step in research:
The GTEx v8 data release represents a deep survey of both intra- and interindividual transcriptome variation across a large number of tissues. With 838 donors and 15,201 samples—approximately twice the size of the v6 release used in the previous set of GTEx Consortium papers—we have created a comprehensive resource of genetic variants that influence gene expression and splicing in cis. This substantially expands and updates the GTEx catalog of sQTLs, doubles the number of eGenes per tissue, and saturates the discovery of eQTLs with greater than twofold effect sizes in ~40 tissues. The fine-mapping data of GTEx cis-eQTLs provide a set of thousands of likely causal functional variants. While trans-QTL discovery and the characterization of sex- and population-specific genetic effects are still limited by sample size, analyses of the v8 data provide important insights into each.