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.
Fig. 1 Sample and data types in the GTEx v8 study.
(A) Illustration of the 54 tissue types examined (including 11 distinct brain regions and two cell lines), with sample numbers from genotyped donors in parentheses and color coding indicated in the adjacent circles. Tissues with 70 or more samples were included in QTL analyses. (B) Illustration of the core data types used throughout the study. Gene expression and splicing were quantified from bulk RNA-seq of heterogeneous tissue samples, and local and distal genetic effects (cis-QTLs and trans-QTLs, respectively) were quantified across individuals for each tissue.
