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dc.contributor.authorChoudhury, Ananyoen
dc.contributor.authorAron, Shaunen
dc.contributor.authorBotigué, Laura R.en
dc.contributor.authorSengupta, Dhritien
dc.contributor.authorBotha, Gerriten
dc.contributor.authorBensellak, Taoufiken
dc.contributor.authorWells, Gordonen
dc.contributor.authorKumuthini, Juditen
dc.contributor.authorShriner, Danielen
dc.contributor.authorFakim, Yasmina J.en
dc.contributor.authorGhoorah, Anisah W.en
dc.contributor.authorDareng, Eileenen
dc.contributor.authorOdia, Trusten
dc.contributor.authorFalola, Oluwadamilareen
dc.contributor.authorAdebiyi, Ezekielen
dc.contributor.authorHazelhurst, Scotten
dc.contributor.authorMazandu, Gastonen
dc.contributor.authorNyangiri, Oscar A.en
dc.contributor.authorMbiyavanga, Mamanaen
dc.contributor.authorBenkahla, Aliaen
dc.contributor.authorKassim, Samar K.en
dc.contributor.authorMulder, Nicolaen
dc.contributor.authorAdebamowo, Sally N.en
dc.contributor.authorChimusa, Emile R.en
dc.contributor.authorMuzny, Donnaen
dc.contributor.authorMetcalf, Gingeren
dc.contributor.authorGibbs, Richard A.en
dc.contributor.authorRotimi, Charlesen
dc.contributor.authorRamsay, Michèleen
dc.contributor.authorAdeyemo, Adebowale A.en
dc.contributor.authorLombard, Zanéen
dc.contributor.authorHanchard, Neil A.en
dc.contributor.authorMatovu, Enocken
dc.contributor.authorBucheton, Brunoen
dc.contributor.authorHertz-Fowler, Christianeen
dc.contributor.authorKoffi, Mathurinen
dc.contributor.authorMacleod, Annetteen
dc.contributor.authorMumba-Ngoyi, Dieudonneen
dc.contributor.authorNoyes, Harryen
dc.contributor.authorSimo, Gustaveen
dc.contributor.authorSimuunza, Martinen
dc.contributor.authorBotigué, Lauraen
dc.contributor.authorAdebamowo, Clementen
dc.contributor.authorAgongo, Godfreden
dc.contributor.authorBoua, Romuald P.en
dc.contributor.authorOduro, Abrahamen
dc.contributor.authorSorgho, Hermannen
dc.contributor.authorLandouré, Guidaen
dc.contributor.authorCissé, Lassanaen
dc.contributor.authorDiarra, Salimataen
dc.contributor.authorSamassékou, Oumaren
dc.contributor.authorAnabwani, Gabrielen
dc.contributor.authorMatshaba, Mogomotsien
dc.contributor.authorJoloba, Mosesen
dc.contributor.authorKekitiinwa, Adeodataen
dc.contributor.authorMardon, Graemeen
dc.contributor.authorMpoloka, Sununguko W.en
dc.contributor.authorKyobe, Samuelen
dc.contributor.authorMlotshwa, Busisiween
dc.contributor.authorMwesigwa, Savannahen
dc.contributor.authorRetshabile, Gaoneen
dc.contributor.authorWilliams, Lesedien
dc.contributor.authorWonkam, Ambroiseen
dc.contributor.authorMoussa, Ahmeden
dc.contributor.authorAdu, Dwomoaen
dc.contributor.authorOjo, Akinloluen
dc.contributor.authorBurke, Daviden
dc.contributor.authorSalako, Babatunde O.en
dc.contributor.authorAwadalla, Philipen
dc.contributor.authorBruat, Vanessaen
dc.contributor.authorGbeha, Eliasen
dc.date.accessioned2020-12-24T16:10:05Z
dc.date.available2020-12-24T16:10:05Z
dc.date.issued2020-10-28
dc.date.submitted2019-05-10
dc.identifier.issn0028-0836
dc.identifier.others41586-020-2859-7
dc.identifier.other2859
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/315603
dc.description.abstractAbstract: 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.
dc.languageen
dc.publisherNature Publishing Group UK
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectArticle
dc.subject/631/181/2474
dc.subject/631/208/457/649
dc.subject/631/208/514/2254
dc.subject/692/308/2056
dc.subject/45
dc.subject/45/23
dc.subjectarticle
dc.titleHigh-depth African genomes inform human migration and health
dc.typeArticle
dc.date.updated2020-12-24T16:10:04Z
prism.endingPage748
prism.issueIdentifier7831
prism.publicationNameNature
prism.startingPage741
prism.volume586
dc.identifier.doi10.17863/CAM.62709
dcterms.dateAccepted2020-08-07
rioxxterms.versionofrecord10.1038/s41586-020-2859-7
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidBensellak, Taoufik [0000-0002-6151-6276]
dc.contributor.orcidShriner, Daniel [0000-0003-1928-5520]
dc.contributor.orcidGhoorah, Anisah W. [0000-0001-8273-6000]
dc.contributor.orcidDareng, Eileen [0000-0003-0802-419X]
dc.contributor.orcidHazelhurst, Scott [0000-0002-0581-149X]
dc.contributor.orcidNyangiri, Oscar A. [0000-0003-2741-2921]
dc.contributor.orcidKassim, Samar K. [0000-0002-4359-6620]
dc.contributor.orcidRotimi, Charles [0000-0001-5759-053X]
dc.contributor.orcidRamsay, Michèle [0000-0002-4156-4801]
dc.contributor.orcidAdeyemo, Adebowale A. [0000-0002-3105-3231]
dc.contributor.orcidLombard, Zané [0000-0002-7997-2616]
dc.contributor.orcidHanchard, Neil A. [0000-0003-1925-2665]
dc.contributor.orcidAdeyemo, Adebowale A. [0000-0002-3105-3231]
dc.contributor.orcidLombard, Zané [0000-0002-7997-2616]
dc.contributor.orcidHanchard, Neil A. [0000-0003-1925-2665]
dc.contributor.orcidMpoloka, Sununguko W. [0000-0003-0147-1819]
dc.contributor.orcidKyobe, Samuel [0000-0003-0444-5608]
dc.contributor.orcidMwesigwa, Savannah [0000-0001-5466-2315]
dc.contributor.orcidWonkam, Ambroise [0000-0003-1420-9051]
dc.contributor.orcidMoussa, Ahmed [0000-0003-1628-8179]
dc.identifier.eissn1476-4687


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)