ArticleBMC genomics2013
Genetic diversity in black South Africans from Soweto.
Article in BMC genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 61 citations in OpenAlex.
- A catalogue of early diverged contemporary human genome variation reveals distinct Khoe-San populations.Nature communications · 2026Article
- Novel polymorphic and copy number diversity in the antibody IGH locus of South African individuals.Immunogenetics · 2024Article
- Implementation of a genotyped African population cohort, with virtual follow-up: A feasibility study in the Western Cape Province, South Africa.Wellcome open research · 2024Article
- Whole genomes from Angola and Mozambique inform about the origins and dispersals of major African migrations.Nature communications · 2023Article
- FGFR2 genetic variants in women with breast cancer.Molecular medicine reports · 2023Article
- High Resolution HLA ∼A, ∼B, ∼C, ∼DRB1, ∼DQA1, and ∼DQB1 Diversity in South African Populations.Frontiers in genetics · 2022Article
- African genetic diversity and adaptation inform a precision medicine agenda.Nature reviews. Genetics · 2021Review
- Bantu-speaker migration and admixture in southern Africa.Human molecular genetics · 2021Review
- Genetic substructure and complex demographic history of South African Bantu speakers.Nature communications · 2021Article
- De Novo Assembly-Based Analysis ofGenes · 2020Article
- Globally RareFrontiers in oncology · 2020Article
- Association of chronic inflammation and accelerated atherosclerosis among an indigenous black population with chronic kidney disease.PloS one · 2020Article
- Targeted ultra-deep sequencing of a South African Bantu-speaking cohort to comprehensively map and characterize common and novel variants in 65 pharmacologically-related genes.Pharmacogenetics and genomics · 2019Article
- The prevalence of malnutrition and growth percentiles for urban South African children.BMC public health · 2019Article
- HLA-DRB1 Amino Acid Positions and Residues Associated with Antibody-positive Rheumatoid Arthritis in Black South Africans.The Journal of rheumatology · 2019Article
- Population Structure and Implications on the Genetic Architecture of HIV-1 Phenotypes Within Southern Africa.Frontiers in genetics · 2019Review
- The Next Generation Scientist program: capacity-building for future scientific leaders in low- and middle-income countries.BMC medical education · 2018Article
- Genetic variants in SEC16B are associated with body composition in black South Africans.Nutrition & diabetes · 2018Article
- Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.American journal of human genetics · 2018Article
- Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans.Nature communications · 2017Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundDue to the unparalleled genetic diversity of its peoples, Africa is attracting growing research attention. Several African populations have been assessed in global initiatives such as the International HapMap and 1000 Genomes Projects. Notably excluded, however, is the southern Africa region, which is inhabited predominantly by southeastern Bantu-speakers, currently suffering under the dual burden of infectious and non-communicable diseases. Limited reference data for these individuals hampers medical research and prevents thorough understanding of the underlying population substructure. Here, we present the most detailed exploration, to date, of genetic diversity in 94 unrelated southeastern Bantu-speaking South Africans, resident in urban Soweto (Johannesburg).
resultsParticipants were typed for ~4.3 million SNPs using the Illumina Omni5 beadchip. PCA and ADMIXTURE plots were used to compare the observed variation with that seen in selected populations worldwide. Results indicated that Sowetans, and other southeastern Bantu-speakers, are a clearly distinct group from other African populations previously investigated, reflecting a unique genetic history with small, but significant contributions from diverse sources. To assess the suitability of our sample as representative of Sowetans, we compared our results to participants in a larger rheumatoid arthritis case-control study. The control group showed good clustering with our sample, but among the cases were individuals who demonstrated notable admixture.
conclusionsSowetan population structure appears unique compared to other black Africans, and may have clinical implications. Our data represent a suitable reference set for southeastern Bantu-speakers, on par with a HapMap type reference population, and constitute a prelude to the Southern African Human Genome Programme.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.