A map of blood regulatory variation in South Africans enables GWAS interpretation.

ABSTRACT: Functional genomics resources are critical for interpreting human genetic studies, but currently they are predominantly from European-ancestry individuals. Here we present the South African Blood Regulatory (SABR) resource, a map of blood regulatory variation that includes three South Eastern Bantu-speaking groups. Using paired whole-genome and blood transcriptome data from over 600 individuals, we map the genetic architecture of 40 blood cell traits derived from deconvolution analysis, as well as expression, splice and cell-type interaction quantitative trait loci. We comprehensively compare SABR to the Genotype Tissue Expression Project and characterize thousands of regulatory variants only observed in African-ancestry individuals. Finally, we demonstrate the increased utility of SABR fo

SUBMITTER: Castel SE 

PROVIDER: S-EPMC12283414 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature