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H3Africa - Pharmacogenomic diversity across 12 understudied African populations from whole-exome sequencing

Cohort study characterizing pharmacogenomic diversity across 12 previously understudied African populations. 127 individuals were recruited from the AIBST biobank under MRCZ ethics approval, spanning Kikuyu, Luo, Maasai and psychiatric-patient groups (Kenya); two ethnicity-unspecified cohorts (Tanzania); Igbo, Hausa, Yoruba (Nigeria); Venda (South Africa); and San and Shona (Zimbabwe). The cohort emphasizes ethnic groups absent or underrepresented in 1000 Genomes, gnomAD, and AGVP. Characteristics under investigation are pharmacogene variant frequencies, population-level differentiation, novel-variant pathogenicity, and predicted metabolizer phenotypes relevant to HIV, tuberculosis, and malaria therapeutics. Participants are healthy adults; this is not a case-control design. Data sharing is consented under AIBST/MRCZ terms for biomedical research, broadly aligned with Data Use Ontology codes for general research use (GRU) and health/medical/biomedical research (HMB).