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   Cohort and Data Overview   The SABR cohort consists of 754 individuals who participanted in the AWI-Gen cohort and were recontacted and reconsented for this study. Venous whole blood samples were taken and used to carry out WGS at a median depth of 5.1x and paired-end, stranded RNA-sequencing with globin and rRNA depletion at a median depth of 30M mapped read pairs. All data are made available for non-commercial use only. All coordinates are provided in GRCh38.   Here we provide expression and splice QTL genome-wide summary statistics.