ArticleCell2019
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
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Article in Cell, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers, 10 of them syntheses that pooled it.
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128citing papers in PubMed, 10 pooled it
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Who cites it
128 citing papers in PubMed, 10 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
- Gene-environment interplay explaining individual variation in BMI outcomes: a systematic review and meta-analysis of studies using polygenic indices.International journal of obesity (2005) · 2026Pooled it
- Accounting for heterogeneity due to environmental sources in meta-analysis of genome-wide association studies.Communications biology · 2024Pooled it
- Genome-wide association study meta-analysis of blood pressure traits and hypertension in sub-Saharan African populations: an AWI-Gen study.Nature communications · 2023Pooled it
- Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.Nature communications · 2023Pooled it
- Meta-analysis of African ancestry genome-wide association studies identified novel locus and validates multiple loci associated with kidney function.BMC genomics · 2023Pooled it
- Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.Nature communications · 2022Pooled it
- Polygenic Prediction of Type 2 Diabetes in Africa.Diabetes care · 2022Pooled it
- Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.American journal of human genetics · 2021Pooled it
- Trans-ethnic meta-analysis identifies new loci associated with longitudinal blood pressure traits.Scientific reports · 2021Pooled it
- 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
- Reporting and representation of population descriptors in public RNA-seq databases.Cell genomics · 2026Article
- Genetic associations with alcohol drinking initiation and cessation in sub-Saharan African and African ancestry populations.Research square · 2026Article
- A multi-ancestry polygenic risk score for body mass index predicts longitudinal weight change.Genome medicine · 2026Article
- 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
- Ancestral diversity in complex disease genetics: from discovery to translation.Nature reviews. Genetics · 2026Review
- Insights into the genetic aetiology of diabetes in Africa.EBioMedicine · 2026Review
- Incorporating polygenic risk scores and social determinants of health across populations: Considerations and best practices in research.American journal of human genetics · 2026Review
- Genome admixture analysis of 1,030 Ugandan infants with neonatal sepsis and hydrocephalus demonstrates geographical stratification of population disease risk.medRxiv : the preprint server for health sciences · 2026Article
68 more citing papers are in PubMed but not listed here.
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Authors and funding
57 authors.
Deepti GurdasaniWilliam Harvey Research Institute, Queen Mary's University of London, London, UK.
Tommy CarstensenDepartment of Medicine, University of Cambridge, Cambridge, UK.
Segun FatumoLondon School of Hygiene and Tropical Medicine, London, UK; Uganda Medical Informatics Centre (UMIC), MRC/UVRI and LSHTM (Uganda Research Unit), Entebbe, Uganda; H3Africa Bioinformatics Network (H3ABioNet) Node, Center for Genomics Research and Innovation (CGRI)/National Biotechnology Development Agency CGRI/NABDA, Abuja, Nigeria.
Guanjie ChenCenter for Research on Genomics and Global Health, National Institute of Health, Bethesda, MD, USA.
Chris S FranklinWellcome Sanger Institute, Hinxton, Cambridge, UK.
Javier Prado-MartinezWellcome Sanger Institute, Hinxton, Cambridge, UK.
Heleen BoumanWellcome Sanger Institute, Hinxton, Cambridge, UK.
Federico AbascalWellcome Sanger Institute, Hinxton, Cambridge, UK.
Marc HaberWellcome Sanger Institute, Hinxton, Cambridge, UK.
Ioanna TachmazidouGSK Medicines Research Centre, Gunnels Wood Road, Stevenage Hertfordshire SG1 2NY, UK.
Iain MathiesonPerelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Kenneth EkoruMedical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda; Department of Medicine, University of Cambridge, Cambridge, UK.
Marianne K DeGorterDepartment of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Rebecca N NsubugaMedical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda.
Chris FinanWellcome Sanger Institute, Hinxton, Cambridge, UK.
Eleanor WheelerWellcome Sanger Institute, Hinxton, Cambridge, UK; MRC Epidemiology Unit, University of Cambridge, Cambridge, UK.
Li ChenWellcome Sanger Institute, Hinxton, Cambridge, UK.
David N CooperInstitute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Stephan SchiffelsDepartment of Archaeogenetics, Max Planck Institute for the Science of Human History, Jena, Germany.
Yuan ChenWellcome Sanger Institute, Hinxton, Cambridge, UK.
Graham R S RitchieWellcome Sanger Institute, Hinxton, Cambridge, UK.
Martin O PollardWellcome Sanger Institute, Hinxton, Cambridge, UK.
Mary D FortuneWellcome Sanger Institute, Hinxton, Cambridge, UK.
Alex J MentzerThe Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Erik GarrisonWellcome Sanger Institute, Hinxton, Cambridge, UK.
Anders BergströmWellcome Sanger Institute, Hinxton, Cambridge, UK.
Konstantinos HatzikotoulasWellcome Sanger Institute, Hinxton, Cambridge, UK; Institute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Adebowale AdeyemoCenter for Research on Genomics and Global Health, National Institute of Health, Bethesda, MD, USA.
Ayo DoumateyCenter for Research on Genomics and Global Health, National Institute of Health, Bethesda, MD, USA.
Heather EldingWellcome Sanger Institute, Hinxton, Cambridge, UK.
Louise V WainDepartment of Health Sciences, University of Leicester, Leicester, UK; National Institute for Health Research, Leicester Biomedical Research Centre, Glenfield Hospital, Leicester, UK.
Georg EhretMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211 Genève 14, Switzerland.
Paul L AuerZilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, USA.
Charles L KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA, USA; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Nora FranceschiniDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC, USA.
Dermot MaherMedical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda.
Stephen B MontgomeryPerelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Carl KadieMicrosoft Research, Redmond, CA, USA.
Chris WidmerMicrosoft Research, Los Angeles, CA, USA.
Yali XueWellcome Sanger Institute, Hinxton, Cambridge, UK.
Janet SeeleyLondon School of Hygiene and Tropical Medicine, London, UK; Medical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda.
Gershim AsikiMedical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda.
Anatoli KamaliMedical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda.
Elizabeth H YoungWellcome Sanger Institute, Hinxton, Cambridge, UK; Department of Medicine, University of Cambridge, Cambridge, UK.
Cristina PomillaWellcome Sanger Institute, Hinxton, Cambridge, UK; Department of Medicine, University of Cambridge, Cambridge, UK.
Nicole SoranzoWellcome Sanger Institute, Hinxton, Cambridge, UK; Department of Haematology, University of Cambridge, Cambridge, UK; The National Institute for Health Research Blood and Transplant Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, UK.
Eleftheria ZegginiInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Fraser PirieDepartment of Diabetes and Endocrinology, University of KwaZulu-Natal, Durban, South Africa.
Andrew P MorrisThe Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK; Department of Biostatistics, University of Liverpool, Liverpool, UK.
David HeckermanMicrosoft Research, Los Angeles, CA, USA.
Chris Tyler-SmithWellcome Sanger Institute, Hinxton, Cambridge, UK. Electronic address: cts@sanger.ac.uk.
Ayesha A MotalaDepartment of Diabetes and Endocrinology, University of KwaZulu-Natal, Durban, South Africa. Electronic address: motala@ukzn.ac.za.
Charles RotimiCenter for Research on Genomics and Global Health, National Institute of Health, Bethesda, MD, USA. Electronic address: rotimic@mail.nih.gov.
Pontiano KaleebuLondon School of Hygiene and Tropical Medicine, London, UK; Uganda Medical Informatics Centre (UMIC), MRC/UVRI and LSHTM (Uganda Research Unit), Entebbe, Uganda; Medical Research Council/Uganda Virus Research Institute (MRC/UVRI) and London School of Hygiene & Tropical Medicine Uganda Research Unit on AIDS, Entebbe, Uganda. Electronic address: pontiano.kaleebu@mrcuganda.org.
Inês BarrosoWellcome Sanger Institute, Hinxton, Cambridge, UK; MRC Epidemiology Unit, University of Cambridge, Cambridge, UK. Electronic address: ib1@sanger.ac.uk.
Manj S SandhuDepartment of Medicine, University of Cambridge, Cambridge, UK. Electronic address: mss31@cam.ac.uk.
Funding
H3ABioNet: a sustainable African Bioinformatics Network for H3AfricaU41HG006941 · NHGRI · UNIVERSITY OF CAPE TOWN · PI MULDER, NICOLA · 2012 to 2017
$14.8MLeveraging ancestry to map kidney lociR01MD012765 · NIMHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA · 2017 to 2021
$3.6MGenetics of kidney disease in diverse populationsR01DK117445 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA · 2018 to 2022
$2.7MTransgenerational Epigenomics of Trauma and PTSD in RwandaU01MH115485 · NIMH · NATIONAL UNIVERSITY OF RWANDA · PI JANSEN, STEFAN, MUTESA, LEON · 2017 to 2021
$1.3MAPOL1, sickle cell trait and chronic kidney disease in African AmericansR56DK104806 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA, REINER, ALEXANDER P · 2016 to 2016
$300kTrans-ethnic meta-analysis of blood pressure in African and European ancestriesR21HL123677 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA · 2014 to 2015
$242kPhenome-wide association of protein function-altering variants in a family studyR21HL140385 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA · 2017 to 2018
$229kMedical Research Council G0801566Medical Research Council G0901213Medical Research Council MC_EX_MR/L016273/1Medical Research Council MC_UU_00027/1Medical Research Council MR/K013491/1Medical Research Council MR/S003711/1Medical Research Council MR/S003711/2NHGRI NIH HHS U41 HG006941NHLBI NIH HHS R21 HL123677NHLBI NIH HHS R21 HL140385NIDDK NIH HHS R01 DK117445NIDDK NIH HHS R56 DK104806NIMHD NIH HHS R01 MD012765NIMH NIH HHS U01 MH115485Wellcome Trust 107743
Abstract
Genomic studies in African populations provide unique opportunities to understand disease etiology, human diversity, and population history. In the largest study of its kind, comprising genome-wide data from 6,400 individuals and whole-genome sequences from 1,978 individuals from rural Uganda, we find evidence of geographically correlated fine-scale population substructure. Historically, the ancestry of modern Ugandans was best represented by a mixture of ancient East African pastoralists. We demonstrate the value of the largest sequence panel from Africa to date as an imputation resource. Examining 34 cardiometabolic traits, we show systematic differences in trait heritability between European and African populations, probably reflecting the differential impact of genes and environment. In a multi-trait pan-African GWAS of up to 14,126 individuals, we identify novel loci associated with anthropometric, hematological, lipid, and glycemic traits. We find that several functionally important signals are driven by Africa-specific variants, highlighting the value of studying diverse populations across the region.
Indexed as
Genetic Predisposition to DiseaseGenomicsBlack PeopleFemaleGene FrequencyGenome, HumanGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideUgandaWhole Genome Sequencing
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