Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans

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dc.contributor.authorChoudhury, Ananyoen_ZA
dc.contributor.authorRamsay, Micheleen_ZA
dc.contributor.authorHazelhurst, Scotten_ZA
dc.contributor.authorAron, Shaunen_ZA
dc.contributor.authorBardien, Sorayaen_ZA
dc.contributor.authorBotha, Gerriten_ZA
dc.contributor.authorChimusa, Emile R.en_ZA
dc.contributor.authorChristoffels, Alanen_ZA
dc.contributor.authorGamieldien, Junaiden_ZA
dc.contributor.authorSefid-Dashti, Mahjoubeh J.en_ZA
dc.contributor.authorJoubert, Fourieen_ZA
dc.contributor.authorMeintjes, Aytonen_ZA
dc.contributor.authorMulder, Nicolaen_ZA
dc.contributor.authorRamesar, Rajen_ZA
dc.contributor.authorRees, Jasperen_ZA
dc.contributor.authorScholtz, Kathrineen_ZA
dc.contributor.authorSengupta, Dhritien_ZA
dc.contributor.authorSoodyall, Himlaen_ZA
dc.contributor.authorVenter, Philipen_ZA
dc.contributor.authorWarnich, Louiseen_ZA
dc.contributor.authorPepper, Michael S.en_ZA
dc.date.accessioned2018-10-26T13:05:15Z
dc.date.available2018-10-26T13:05:15Z
dc.date.issued2017
dc.descriptionCITATION: Choudhury, A., et al. 2017. Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans. Nature Communications, 8, Article number: 2062, doi:10.1038/s41467-017-00663-9.
dc.descriptionThe original publication is available at https://www.nature.com
dc.description.abstractENGLISH ABSTRACT: The Southern African Human Genome Programme is a national initiative that aspires to unlock the unique genetic character of southern African populations for a better understanding of human genetic diversity. In this pilot study the Southern African Human Genome Programme characterizes the genomes of 24 individuals (8 Coloured and 16 black southeastern Bantu-speakers) using deep whole-genome sequencing. A total of ~16 million unique variants are identified. Despite the shallow time depth since divergence between the two main southeastern Bantu-speaking groups (Nguni and Sotho-Tswana), principal component analysis and structure analysis reveal significant (p < 10−6) differentiation, and FST analysis identifies regions with high divergence. The Coloured individuals show evidence of varying proportions of admixture with Khoesan, Bantu-speakers, Europeans, and populations from the Indian sub-continent. Whole-genome sequencing data reveal extensive genomic diversity, increasing our understanding of the complex and region-specific history of African populations and highlighting its potential impact on biomedical research and genetic susceptibility to disease.en_ZA
dc.description.urihttps://www.nature.com/articles/s41467-017-00663-9
dc.description.versionPublisher's version
dc.format.extent12 pages : illustrations, mapsen_ZA
dc.identifier.citationChoudhury, A., et al. 2017. Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans. Nature Communications, 8, Article number: 2062, doi:10.1038/s41467-017-00663-9
dc.identifier.issn2041-1723 (online)
dc.identifier.otherdoi:10.1038/s41467-017-00663-9
dc.identifier.urihttp://hdl.handle.net/10019.1/104615
dc.language.isoen_ZAen_ZA
dc.publisherNature Research (part of Springer Nature)en_ZA
dc.rights.holderAuthors retain copyrighten_ZA
dc.subjectHuman genetic diversityen_ZA
dc.subjectHuman genomeen_ZA
dc.subjectHuman genetics -- Variationen_ZA
dc.subjectAfricans -- Human genetics -- Variationen_ZA
dc.titleWhole-genome sequencing for an enhanced understanding of genetic variation among South Africansen_ZA
dc.typeArticleen_ZA
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