ArticleNature2015
The African Genome Variation Project shapes medical genetics in Africa.
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Article in Nature, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 377 papers, 5 of them syntheses that pooled it.
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377citing papers in PubMed, 5 pooled it
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Who cites it
377 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- KidneyGenAfrica multi-cohort Genome-wide association study and polygenic prediction of kidney function in 110,000 Africans.Nature communications · 2026Pooled it
- Multi-ancestry genome-wide association meta-analysis of buprenorphine treatment response.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2025Pooled it
- Advancing genetic counselling in Southern Africa: Unveiling opportunities for inclusive healthcare and genomic education for Angola.Saudi medical journal · 2025Pooled it
- Genome-wide association study of hospitalized patients and acute kidney injury.Kidney international · 2024Pooled it
- An empirical Bayes approach to improving population-specific genetic association estimation by leveraging cross-population data.Genetic epidemiology · 2023Pooled it
- Gene expression of tight junctions in foreskin is not affected by HIV pre-exposure prophylaxis.Frontiers in immunology · 2024Trial
- Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.HGG advances · 2026Article
- Neuropsychiatry genetics in Africa.Nature communications · 2026Review
- Genetic associations with alcohol drinking initiation and cessation in sub-Saharan African and African ancestry populations.Research square · 2026Article
- Recovering the precolonial population structure of Khoe-San descendant populations.Science advances · 2026Article
- Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.iScience · 2026Article
- Are different populations fairly represented in single-cell omic atlases?Cell genomics · 2026Review
- A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.Nature genetics · 2026Article
- High KIR diversity in Uganda and Botswana children living with HIV.Human immunology · 2026Article
- The use of artificial intelligence in advancing molecular biology in Africa: a narrative review.Molecular genetics and genomics : MGG · 2026Review
- Precision oncology without borders: the role of biobanking in integrating Africa's genetic diversity into global genomic research.NPJ precision oncology · 2026Review
- National genomic projects in Asia and Africa: a review.Human genomics · 2026Review
- Advancing global genomic equity: making a case for national genome projects in Africa.Nature communications · 2026Article
- Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.Biochemistry and biophysics reports · 2026Review
- Are Different Populations Fairly Represented in Single-Cell Omic Atlases?bioRxiv : the preprint server for biology · 2026Article
317 more citing papers are in PubMed but not listed here.
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Authors and funding
42 authors.
Deepti Gurdasani1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Department of Public Health and Primary Care, University of Cambridge, 2 Wort's Causeway, Cambridge, CB1 8RN, UK.
Tommy Carstensen1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Department of Public Health and Primary Care, University of Cambridge, 2 Wort's Causeway, Cambridge, CB1 8RN, UK.
Fasil Tekola-AyeleCentre for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, 12 South Drive, MSC 5635, Bethesda, Maryland 20891-5635, USA.
Luca Pagani1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Department of Biological, Geological and Environmental Sciences, University of Bologna, Via Selmi 3, 40126 Bologna, Italy.
Ioanna TachmazidouWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Konstantinos HatzikotoulasWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Savita Karthikeyan1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Department of Public Health and Primary Care, University of Cambridge, 2 Wort's Causeway, Cambridge, CB1 8RN, UK.
Louise Iles1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Department of Public Health and Primary Care, University of Cambridge, 2 Wort's Causeway, Cambridge, CB1 8RN, UK [3] Department of Archaeology, University of York, King's Manor, York YO1 7EP, UK.
Martin O PollardWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Ananyo ChoudhurySydney Brenner Institute of Molecular Bioscience (SBIMB), University of the Witwatersrand, The Mount, 9 Jubilee Road, Parktown 2193, Johannesburg, Gauteng, South Africa.
Graham R S Ritchie1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Vertebrate Genomics, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Yali XueWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Jennifer AsimitWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Rebecca N NsubugaMedical Research Council/Uganda Virus Research Institute, Plot 51-57 Nakiwogo Road, Uganda.
Elizabeth H Young1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Department of Public Health and Primary Care, University of Cambridge, 2 Wort's Causeway, Cambridge, CB1 8RN, UK.
Cristina Pomilla1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Department of Public Health and Primary Care, University of Cambridge, 2 Wort's Causeway, Cambridge, CB1 8RN, UK.
Katja KivinenWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Kirk RockettWellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK.
Anatoli KamaliMedical Research Council/Uganda Virus Research Institute, Plot 51-57 Nakiwogo Road, Uganda.
Ayo P DoumateyCentre for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, 12 South Drive, MSC 5635, Bethesda, Maryland 20891-5635, USA.
Gershim AsikiMedical Research Council/Uganda Virus Research Institute, Plot 51-57 Nakiwogo Road, Uganda.
Janet SeeleyMedical Research Council/Uganda Virus Research Institute, Plot 51-57 Nakiwogo Road, Uganda.
Fatoumatta Sisay-JoofMedical Research Council Unit, Atlantic Boulevard, SerrekundaPO Box 273, Banjul, The Gambia.
Muminatou JallowMedical Research Council Unit, Atlantic Boulevard, SerrekundaPO Box 273, Banjul, The Gambia.
Stephen Tollman1] Medical Research Council/Wits Rural Public Health and Health Transitions Unit, School of Public Health, Education Campus, 27 St Andrew's Road, Parktown 2192, Johannesburg, Gauteng, South Africa [2] INDEPTH Network, 38/40 Mensah Wood Street, East Legon, PO Box KD 213, Kanda, Accra, Ghana.
Ephrem MekonnenInstitute of Biotechnology, Addis Ababa University, Entoto Avenue, Arat Kilo, 16087 Addis Ababa, Ethiopia.
Rosemary EkongDepartment of Genetics Evolution and Environment, University College, London, Gower Street, London WC1E 6BT, UK.
Tamiru OljiraUniversity of Haramaya, Department of Biology, PO Box 138, Dire Dawa, Ethiopia.
Neil BradmanHenry Stewart Group, 28/30 Little Russell Street, London WC1A 2HN, UK.
Kalifa BojangMedical Research Council Unit, Atlantic Boulevard, SerrekundaPO Box 273, Banjul, The Gambia.
Michele Ramsay1] Sydney Brenner Institute of Molecular Bioscience (SBIMB), University of the Witwatersrand, The Mount, 9 Jubilee Road, Parktown 2193, Johannesburg, Gauteng, South Africa [2] Division of Human Genetics, National Health Laboratory Service, C/O Hospital and de Korte Streets, Braamfontein 2000, Johannesburg, South Africa [3] School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Braamfontein 2000, Johannesburg, South Africa.
Adebowale AdeyemoCentre for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, 12 South Drive, MSC 5635, Bethesda, Maryland 20891-5635, USA.
Endashaw BekeleDepartment of Microbial, Cellular and Molecular Biology, College of Natural Sciences, Arat Kilo Campus, Addis Ababa University, PO Box 1176, Addis Ababa, Ethiopia.
Ayesha MotalaDepartment of Diabetes and Endocrinology, University of KwaZulu-Natal, 719 Umbilo Road, Congella, Durban 4013, South Africa.
Shane A NorrisDepartment of Paediatrics, University of Witwatersrand, 7 York Road, Parktown 2198, Johannesburg, Gauteng, South Africa.
Fraser PirieDepartment of Diabetes and Endocrinology, University of KwaZulu-Natal, 719 Umbilo Road, Congella, Durban 4013, South Africa.
Pontiano KaleebuMedical Research Council/Uganda Virus Research Institute, Plot 51-57 Nakiwogo Road, Uganda.
Dominic Kwiatkowski1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, UK.
Chris Tyler-SmithWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Charles RotimiCentre for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, 12 South Drive, MSC 5635, Bethesda, Maryland 20891-5635, USA.
Eleftheria ZegginiWellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Manjinder S Sandhu1] Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK [2] Department of Public Health and Primary Care, University of Cambridge, 2 Wort's Causeway, Cambridge, CB1 8RN, UK.
Funding
Genetic epidemiology of complex diseasesZIAHG200362 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ROTIMI, CHARLES · 2009 to 2025
$54.7MUnderstanding Obesity In Relation to the Built EnvironmentP20MD006899 · NIMHD · JACKSON STATE UNIVERSITY · PI ANTOINE-LAVIGNE, DONNA A · 2012 to 2016
$5.3MGenetic epidemiology of complex diseasesZ01HG200362 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ROTIMI, CHARLES · 2008 to 2008
$1.7MIntramural NIH HHS Z01 HG200362Intramural NIH HHS ZIA HG200362Medical Research Council G0600718Medical Research Council G0801566Medical Research Council G0901213Medical Research Council G0901213-92157Medical Research Council G1001333Medical Research Council MC_UP_A900_1118Medical Research Council MR/K013491/1NIMHD NIH HHS P20 MD006899Wellcome Trust 090770Wellcome Trust 100715Wellcome Trust 100891Wellcome Trust WT077383/Z/05/Z
Abstract
Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa.
Indexed as
AfricaAfrica South of the SaharaAsiaEuropeGenetics, MedicalGenetic VariationGenome, HumanGenomicsHumansRisk FactorsSelection, Genetic
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