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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
High-depth African genomes inform human migration and health
Nature, Volume 586, No. 7831, Year 2020
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Description
The African continent is regarded as the cradle of modern humans and African genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among African individuals has been surveyed1. Here we performed whole-genome sequencing analyses of 426 individuals—comprising 50 ethnolinguistic groups, including previously unsampled populations—to explore the breadth of genomic diversity across Africa. We uncovered more than 3 million previously undescribed variants, most of which were found among individuals from newly sampled ethnolinguistic groups, as well as 62 previously unreported loci that are under strong selection, which were predominantly found in genes that are involved in viral immunity, DNA repair and metabolism. We observed complex patterns of ancestral admixture and putative-damaging and novel variation, both within and between populations, alongside evidence that Zambia was a likely intermediate site along the routes of expansion of Bantu-speaking populations. Pathogenic variants in genes that are currently characterized as medically relevant were uncommon—but in other genes, variants denoted as ‘likely pathogenic’ in the ClinVar database were commonly observed. Collectively, these findings refine our current understanding of continental migration, identify gene flow and the response to human disease as strong drivers of genome-level population variation, and underscore the scientific imperative for a broader characterization of the genomic diversity of African individuals to understand human ancestry and improve health. © 2020, The Author(s).
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC7759466/bin/41586_2020_2859_MOESM1_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC7759466/bin/41586_2020_2859_MOESM2_ESM.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC7759466/bin/41586_2020_2859_MOESM3_ESM.xlsx
Authors & Co-Authors
Choudhury, Ananyo
South Africa, Johannesburg
University of the Witwatersrand
Aron, Shaun
South Africa, Johannesburg
University of the Witwatersrand
Botigué, Laura R.
Spain, Caldes de Montbui
Institut de Recerca I Technologia Agroalimentaries
Sengupta, Dhriti
South Africa, Johannesburg
University of the Witwatersrand
Botha, Gerrit Reinier
South Africa, Cape Town
University of Cape Town
Bensellak, Taoufik
Morocco, Tangier
Ecole Nationale Des Sciences Appliquées de Tanger
Wells, Gordon
South Africa, Cape Town
Centre for Proteomic and Genomic Research
South Africa, Bellville
University of the Western Cape
Kumuthini, Judit
South Africa, Cape Town
Centre for Proteomic and Genomic Research
South Africa, Bellville
University of the Western Cape
Shriner, Daniel A.
United States, Bethesda
National Institutes of Health Nih
Fakim, Yasmina Jaufeerally
Mauritius, Reduit
University of Mauritius
Ghoorah, Anisah Wahed
Mauritius, Reduit
University of Mauritius
Dareng, Eileen O.
United Kingdom, Cambridge
University of Cambridge
Nigeria, Abuja
Institute of Human Virology - Nigeria
Odia, Trust
Nigeria, Ota
Covenant University
Falola, Oluwadamilare
Nigeria, Ota
Covenant University
Adebiyi, Ezekiel Femi
Nigeria, Ota
Covenant University
Hazelhurst, Scott
South Africa, Johannesburg
University of the Witwatersrand
Mazandu, Gaston K.
South Africa, Cape Town
University of Cape Town
Nyangiri, Oscar Asanya
Uganda, Kampala
Makerere University
Mbiyavanga, Mamana
South Africa, Cape Town
University of Cape Town
Benkahla, Alia
Tunisia, Tunis
Institut Pasteur de Tunis
Kassim, Samar Kamal
Egypt, Cairo
Ain Shams University
Mulder, Nicky J.
South Africa, Cape Town
University of Cape Town
Adebamowo, Sally N.
United States, Baltimore
University of Maryland, Baltimore Umb
Chimusa, Emile R.
South Africa, Cape Town
University of Cape Town
Muzny, Donna Marie
United States, Houston
Baylor College of Medicine
Metcalf, Ginger A.
United States, Houston
Baylor College of Medicine
Gibbs, Richard A.L.
United States, Houston
Baylor College of Medicine
Matovu, Enock
Uganda, Kampala
Makerere University
Bucheton, Bruno
France, Montpellier
Ird Centre de Montpellier
Hertz-Fowler, Christiane
United Kingdom, Liverpool
University of Liverpool
United Kingdom, London
Wellcome Trust
Koffi, Mathurin
Cote D'ivoire, Daloa
Jean Lorougnon Guédé University
Macleod, Annette
United Kingdom, Glasgow
University of Glasgow
Mumba-Ngoyi, Dieudonne
Democratic Republic Congo, Kinshasa
Institut National de Recherche Biomédicale
Noyes, Harry A.
United Kingdom, Liverpool
University of Liverpool
Simo, Gustave
Cameroon, Dschang
University of Dschang
Simuunza, Martin Chitolongo
Zambia, Lusaka
University of Zambia
Rotimi, Charles N.
United States, Bethesda
National Institutes of Health Nih
Ramsay, Michèle
South Africa, Johannesburg
University of the Witwatersrand
Choudhury, Ananyo
South Africa, Johannesburg
University of the Witwatersrand
Botigué, Laura
Spain, Caldes de Montbui
Institut de Recerca I Technologia Agroalimentaries
Wells, Gordon
South Africa, Cape Town
Centre for Proteomic and Genomic Research
South Africa, Bellville
University of the Western Cape
Adeyemo, Adebowale A.
United States, Bethesda
National Institutes of Health Nih
Lombard, Zané
South Africa, Johannesburg
University of the Witwatersrand
Hanchard, Neil A.
United States, Houston
Baylor College of Medicine
Adebamowo, Clement Adebayo
Nigeria, Abuja
Institute of Human Virology - Nigeria
United States, Baltimore
University of Maryland, Baltimore Umb
United States, Baltimore
Institute of Human Virology
Agongo, Godfred
South Africa, Johannesburg
University of the Witwatersrand
Ghana, Navrongo
Navrongo Health Research Center
Boua, Palwende R.
South Africa, Johannesburg
University of the Witwatersrand
Burkina Faso, Ouagadougou
Institut de Recherche en Sciences de la Santé
Oduro, Abraham Rexford
Ghana, Navrongo
Navrongo Health Research Center
Sorgho, Hermann
Burkina Faso, Ouagadougou
Institut de Recherche en Sciences de la Santé
Landouré, Guida
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Mali, Bamako
Centre Hospitalier Universitaire du Point g
Cisse, Lassana
Mali, Bamako
Centre Hospitalier Universitaire du Point g
Diarra, Salimata
Mali, Bamako
Centre Hospitalier Universitaire du Point g
United States, Bethesda
National Institutes of Health Nih
Samassékou, Oumar
Mali, Bamako
University of Bamako Faculty of Medicine, Pharmacy and Odonto-stomatology
Anabwani, Gabriel Misango
Botswana, Gaborone
Botswana Baylor Children's Clinical Center of Excellence
Matshaba, Mogomotsi S.
Botswana, Gaborone
Botswana Baylor Children's Clinical Center of Excellence
Joloba, Moses Lutaakome
Uganda, Kampala
Makerere University
Kekitiinwa, Adeodata R.
Uganda, Kampala
Baylor College of Medicine Children's Foundation
Mardon, Graeme
United States, Houston
Baylor College of Medicine
Mpoloka, Sununguko Wata
Botswana, Gaborone
University of Botswana
Kyobe, Samuel
Uganda, Kampala
Makerere University
Mlotshwa, Busisiwe C.
Botswana, Gaborone
University of Botswana
Mwesigwa, Savannah
Uganda, Kampala
Makerere University
Retshabile, Gaone
Botswana, Gaborone
University of Botswana
Williams, Lesedi M.
Botswana, Gaborone
University of Botswana
Wonkam, Ambroise A.
South Africa, Cape Town
University of Cape Town
Moussa, Ahmed
Morocco, Tangier
Ecole Nationale Des Sciences Appliquées de Tanger
Adu, Dwomoa
Ghana, Accra
University of Ghana
Ojo, Akinlolu O.
United States, Kansas City
University of Kansas, School of Medicine
Burke, David T.
United States, Ann Arbor
University of Michigan Medical School
Salako, Babatunde Lawal
Nigeria, Ibadan
University of Ibadan
MacLeod, Annette
United Kingdom, Glasgow
University of Glasgow
Awadalla, Philip
Canada, Toronto
University of Toronto
Canada, Toronto
Ontario Institute for Cancer Research
Bruat, Vanessa
Canada, Toronto
Ontario Institute for Cancer Research
Gbeha, Elias
Canada, Toronto
Ontario Institute for Cancer Research
Statistics
Citations: 146
Authors: 74
Affiliations: 38
Identifiers
Doi:
10.1038/s41586-020-2859-7
ISSN:
00280836
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Study Locations
Zambia