variant-bio/SABR

South African Blood Regulatory Resource # South African Blood Regulatory (SABR) Resource The South African Blood Regulatory (SABR) Resource generated whole genome sequencing (WGS) and blood RNA-seq data from over 600 individuals spanning three South Eastern Bantu-speaking groups. This was a collaboration between Variant Bio and Michele Ramsay's group at Wits University, and includes individuals from the AWI-Gen cohort. These data were used to map genetic variants that impact gene expression, splicing, and cell type levels. A full description of the resource can be found in our manuscript. **A map of blood regulatory variation in South Africans enables GWAS interpretation. Castel _et al._ 2025. _Nature Genetics_.** > 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 Expression (GTEx) Project and characterize thousands of regulatory variants only observed in African-ancestry individuals. Finally, we demonstrate the increased utility of SABR for interpreting African-ancestry association studies by identifying putatively causal genes and molecular mechanisms through colocalization analysis of blood-relevant traits from the Pan-UK Biobank. Importantly, we make full SABR summary statistics publicly available to support the African genomics community. ## Table of Contents 1. Cohort and Data Overview 2. Summary Statistics - Genotype Data - GWAS - QTL Mapping 3. Analysis Results - xCell Disease Modeling - Colocalization Analyses 4. Zenodo 5. Contro …