Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans
| dc.contributor.author | Choudhury, Ananyo | |
| dc.contributor.author | Christoffels, Alan | |
| dc.contributor.author | Gamieldien, Junaid | |
| dc.contributor.author | Sefid-Dashti, Mahjoubeh J. | |
| dc.date.accessioned | 2018-01-03T09:37:53Z | |
| dc.date.available | 2018-01-03T09:37:53Z | |
| dc.date.issued | 2017 | |
| dc.description.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_US |
| dc.identifier.citation | Choudhury, A. et al. (2017). Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans. Nature Communications, 8: 2062 | en_US |
| dc.identifier.issn | 2041-1723 | |
| dc.identifier.uri | http://dx.doi.org/10.1038/s41467-017-00663-9 | |
| dc.identifier.uri | http://hdl.handle.net/10566/3333 | |
| dc.language.iso | en | en_US |
| dc.privacy.showsubmitter | FALSE | |
| dc.publisher | Nature Publishing Group | en_US |
| dc.rights | Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/. | |
| dc.status.ispeerreviewed | TRUE | |
| dc.subject | Genome sequencing | en_US |
| dc.subject | Genetic character | en_US |
| dc.subject | Whole-genome | en_US |
| dc.subject | Genomic diversity | en_US |
| dc.subject | African populations | en_US |
| dc.title | Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans | en_US |
| dc.type | Article | en_US |