Caitlin Uren

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

The paper analyzes genetic ancestry in South African Coloured groups to reveal persistent Khoe-San ancestry and traces Indian Ocean slave trade signatures.

The paper predicts NAT2 genotypes and phenotypes in African populations using bioinformatic tools and next-generation sequencing data to inform pharmacogenetic treatment strategies for tuberculosis.

The paper characterizes structural variation at the 17q21.31 locus in humans and great apes, identifying new haplotypes and evolutionary dynamics.

The paper evaluates MitoImpute's accuracy in southern African populations and applies it to a TB miWAS, finding limited success in capturing population-specific variants.

This study confirms an association between HLA-II region variants and TB susceptibility in admixed South African samples using the LAAA model.

The paper uses genetic data to show sex-biased admixture patterns in South Africa due to colonial migration, with European males and Khoe-San females contributing disproportionately to different regions.

This study identifies ancestry-specific eQTLs in TB-T2D patients using cis-eQTL mapping, revealing variants associated with gene expression that could guide therapeutic targets in African populations.

The paper evaluates the performance of the LAAA model in detecting causal variants in complex admixed southern African populations and recommends using multiple GWAS models.

The paper infers the demographic history of the Nama population and constructs a population-specific recombination map, showing it diverges from existing continental recombination maps.

This study compares RFMix and ADMIXTURE in a complex 5-way admixed population, finding RFMix more accurate for global and local ancestry inference.

The paper uses genome-wide data to reveal fine-scale population structure in southern Africa, showing that KhoeSan groups' ancestry is shaped by geography and ecology rather than language or subsistence.