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

Author

Ananyo Choudhury, Michèle Ramsay, Scott Hazelhurst, Shaun Aron, Soraya Bardien, Gerrit Botha, Emile R. Chimusa, Alan Christoffels, Junaid Gamieldien, Mahjoubeh J. Sefid-Dashti, Fourie Joubert, Ayton Meintjes, Nicola Mulder, Raj Ramesar, Jasper Rees, Kathrine Scholtz, Dhriti Sengupta, Himla Soodyall, Philip Venter, Louise Warnich, and Michael S. Pepper

Subjects
Science
Abstract

African populations show a high level of genetic diversity and extensive regional admixture. Here, the authors sequence the whole genomes of 24 South African individuals of different ethnolinguistic origin and find substantive genomic divergence between two southeastern Bantu-speaking groups.

Published
2017
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2. Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans

Author

Gerrit Botha, Michael S. Pepper, Nicola Mulder, Kathrine Elizabeth Scholtz, Alan Christoffels, Emile R. Chimusa, Raj Ramesar, Ananyo Choudhury, Ayton Meintjes, Michèle Ramsay, Fourie Joubert, Scott Hazelhurst, Louise Warnich, Soraya Bardien, Shaun Aron, Jasper Rees, Mahjoubeh J. Sefid-Dashti, Dhriti Sengupta, Philip Venter, Junaid Gamieldien, and Himla Soodyall

Subjects
0301 basic medicine, Male, Science, DNA Mutational Analysis, General Physics and Astronomy, Black People, Pilot Projects, Human genetic variation, Computational biology, 030105 genetics & heredity, Biology, Genome, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, 03 medical and health sciences, South Africa, Genetic variation, Humans, Genetic Predisposition to Disease, lcsh:Science, Whole genome sequencing, Principal Component Analysis, Multidisciplinary, Data curation, Genome, Human, Genetic Variation, General Chemistry, Healthy Volunteers, 030104 developmental biology, Functional annotation, Mutation, lcsh:Q, Human genome
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, African populations show a high level of genetic diversity and extensive regional admixture. Here, the authors sequence the whole genomes of 24 South African individuals of different ethnolinguistic origin and find substantive genomic divergence between two southeastern Bantu-speaking groups.

Published
2017

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