ArticleCell2023
Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation.
Article in Cell, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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Who cites it
60 citing papers in PubMed.
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Recovering the precolonial population structure of Khoe-San descendant populations.Science advances · 2026Article
- High KIR diversity in Uganda and Botswana children living with HIV.Human immunology · 2026Article
- Revisiting the African mtDNA landscape through complete mitochondrial genomes.Communications biology · 2026Article
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- Pan-African model explainsbioRxiv : the preprint server for biology · 2026Article
- Massively parallel reporter assays forbioRxiv : the preprint server for biology · 2026Article
- Inferring hominin history with recurrent gene flow from single unphased genomes and a two-locus statistic.bioRxiv : the preprint server for biology · 2026Article
- Friend of GATA2 Variant Ser657Gly Is Associated With Coronary Microvascular Disease.Circulation. Genomic and precision medicine · 2026Article
- Regional variability in the Acheulian to Middle Stone Age transition in southern Africa.Scientific reports · 2026Article
- A catalogue of early diverged contemporary human genome variation reveals distinct Khoe-San populations.Nature communications · 2026Article
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- Northeast india: genetic inconsistency across ethnicity and geography.Molecular genetics and genomics : MGG · 2026Article
- Per-allele disease and complex trait effect sizes are predominantly African MAF-dependent in European populations.medRxiv : the preprint server for health sciences · 2026Article
- Genomic Characterization and Phylogenetic Relationships ofAnimals : an open access journal from MDPI · 2026Article
- The genetic architecture of human skin pigmentation: evolution and adaptation across global populations.Frontiers in genetics · 2026Review
- Phenotype of insulin-dependent diabetes in chronic undernutrition: beta cell stress and immune dysfunction-a rural sub-Saharan perspective on type 5 diabetes.Diabetologia · 2025Review
- Global impact of micronutrients in modern human evolution.American journal of human genetics · 2025Article
- Genomic insights into the demographic history and local adaptation of wild boars across Eurasia.Cell genomics · 2025Article
- Polygenic determinants of monogenic diabetes.Nature metabolism · 2025Article
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Authors and funding
19 authors.
Funding
Abstract
We conduct high coverage (>30×) whole-genome sequencing of 180 individuals from 12 indigenous African populations. We identify millions of unreported variants, many predicted to be functionally important. We observe that the ancestors of southern African San and central African rainforest hunter-gatherers (RHG) diverged from other populations >200 kya and maintained a large effective population size. We observe evidence for ancient population structure in Africa and for multiple introgression events from "ghost" populations with highly diverged genetic lineages. Although currently geographically isolated, we observe evidence for gene flow between eastern and southern Khoesan-speaking hunter-gatherer populations lasting until ∼12 kya. We identify signatures of local adaptation for traits related to skin color, immune response, height, and metabolic processes. We identify a positively selected variant in the lightly pigmented San that influences pigmentation in vitro by regulating the enhancer activity and gene expression of PDPK1.
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