2024-07-03

Presentation by Alex Tolokyi

The INTERVAL blood donor cohort, \(n=~50000\) individuals sampled during blood donation across England. Most have been genotyped. Few (~4000-5000) have RNA and proteins sequenced. Further, ~40000 have 230 metabolites sequenced (Nightingale Health). Metabolon HD4 (913 metabolites) for ~10000 individuals.

eQTL and sQTL mapping, colocalization analysis and mediation analysis are available in their RNA-Seq portal.

SpliceQTLs were annotated. They were more downstream (~5-10kb?) from TSS compared to eQTLs. Trans-sQTLs discovered 754 trans-sSNP, 642 splice events and 208 target trans-sGenes. For comparison, GTEx detects 29 trans-sQTLs only 2 of which are in whole blood.

Most trans-sQTL associations with the cis-eSNP for the RNA-binding splice factor QKI.

iGLUT cells and iGABA cells

Cis- and genome-wide heritability of transcript splicing.