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DOI | 10.1038/s41467-018-08070-4 |
Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans | |
Choudhury, Ananyo1; Ramsay, Michele1,2; Hazelhurst, Scott1,3; Aron, Shaun1; Bardien, Soraya4; Botha, Gerrit5; Chimusa, Emile R.6; Christoffels, Alan7; Gamieldien, Junaid7; Sefid-Dashti, Mahjoubeh J.7; Joubert, Fourie8,9; Meintjes, Ayton5; Mulder, Nicola5; Ramesar, Raj6; Rees, Jasper10; Scholtz, Kathrine11; Sengupta, Dhriti1; Soodyall, Himla2,12; Venter, Philip13; Warnich, Louise14; Pepper, Michael S.15 | |
2019-01-11 | |
发表期刊 | NATURE COMMUNICATIONS |
ISSN | 2041-1723 |
出版年 | 2017 |
卷号 | 8 |
文章类型 | Article |
语种 | 英语 |
国家 | South Africa |
英文摘要 | 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 similar to 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. |
领域 | 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000417702300013 |
WOS关键词 | BANTU-SPEAKING POPULATIONS ; COLORED POPULATION ; WIDE ASSOCIATION ; ANCESTRY ; HISTORY ; ADAPTATION ; DNA ; SUBSTRUCTURE ; INDIVIDUALS ; CHROMOSOME |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
URL | 查看原文 |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/204160 |
专题 | 资源环境科学 |
作者单位 | 1.Univ Witwatersrand, Fac Hlth Sci, Sydney Brenner Inst Mol Biosci, ZA-2193 Johannesburg, South Africa; 2.Univ Witwatersrand, Fac Hlth Sci, Sch Pathol, Div Human Genet, ZA-2000 Johannesburg, South Africa; 3.Univ Witwatersrand, Sch Elect & Informat Engn, ZA-2050 Johannesburg, South Africa; 4.Stellenbosch Univ, Fac Med & Hlth Sci, Div Mol Biol & Human Genet, ZA-7505 Tygerberg, South Africa; 5.Univ Cape Town, IDM, Dept Integrat Biomed Sci, Computat Biol Div, ZA-7925 Cape Town, South Africa; 6.Univ Cape Town, Fac Hlth Sci, Dept Pathol, Div Human Genet,IDM, ZA-7925 Cape Town, South Africa; 7.Univ Western Cape, South African Natl Bioinformat Inst, South African MRC Bioinformat Unit, ZA-7925 Bellville, South Africa; 8.Univ Pretoria, Dept Biochem, ZA-0083 Pretoria, South Africa; 9.Univ Pretoria, Genom Res Inst, Ctr Bioinformat & Computat Biol, ZA-0083 Pretoria, South Africa; 10.Agr Res Council, ZA-0184 Pretoria, South Africa; 11.Univ Limpopo, Fac Hlth Sci, Sch Hlth Care Sci, Dept Preclin Sci, ZA-0727 Mankweng, South Africa; 12.Univ Witwatersrand, Fac Hlth Sci, Sch Pathol, Natl Hlth Lab Serv, ZA-2000 Johannesburg, South Africa; 13.Univ Limpopo, Fac Hlth Sci, Dept Med Sci, ZA-0727 Mankweng, South Africa; 14.Stellenbosch Univ, Dept Genet, ZA-7600 Stellenbosch, South Africa; 15.Univ Pretoria, Fac Hlth Sci, Dept Immunol, Inst Cellular & Mol Med, ZA-0084 Pretoria, South Africa |
推荐引用方式 GB/T 7714 | Choudhury, Ananyo,Ramsay, Michele,Hazelhurst, Scott,et al. Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans[J]. NATURE COMMUNICATIONS,2019,8. |
APA | Choudhury, Ananyo.,Ramsay, Michele.,Hazelhurst, Scott.,Aron, Shaun.,Bardien, Soraya.,...&Pepper, Michael S..(2019).Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans.NATURE COMMUNICATIONS,8. |
MLA | Choudhury, Ananyo,et al."Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans".NATURE COMMUNICATIONS 8(2019). |
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