DrTim105/african-population-genomics

Population structure and genetic differentiation analysis of African populations using 1000 Genomes Phase 3 chr22 data — PCA, ADMIXTURE, Fst, and CYP2D6/CYP2D7 pharmacogenomic relevance. # African Population Genomics **Population structure, genetic differentiation, and pharmacogenomic relevance of African populations using 1000 Genomes Project Phase 3 data** > A bioinformatics portfolio project analysing chromosome 22 from 2,504 unrelated individuals across 26 populations and 5 superpopulations, with a focus on within-Africa diversity and its clinical implications for drug metabolism. --- ## Background > *No man is an island, entire of itself; every man is a piece of the continent, a part of the main.* > > — John Donne, Meditation XVII (1624) Most genomic research — and most clinical dosing guidelines — are built on data from populations of European descent. African populations carry more genetic diversity than any other continental group (a direct consequence of humanity's origin in Africa), yet they remain systematically underrepresented in both research datasets and pharmacogenomic databases. This project asks a simple question with clinical consequences: **how much population structure exists within and between African populations, and does it reach into regions of the genome that matter for drug metabolism?** The answer matters because genes like *CYP2D6* — responsible for metabolising roughly 25% of commonly prescribed drugs including codeine, tamoxifen, and many antipsychotics — carry population-specific alleles that directly affect whether a standard dose works, fails, or causes toxicity. The African-specific allele CYP2D6\*17, present in 20–34% of West and East Africans but rare elsewhere, reduces enzyme activity in ways that standard dosing algorithms do not account for. This project builds the evidence for that clinical gap using real genomic data, industry-standard tools, and rigorous statistical methods — then honestly identifies where the analysis pipeline's own design choices limit what it can conclude. --- ## Research Poster A conference-format A0 poster summarising all major findings: **→ View Research Poster** *S …