Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans
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Date
2017
Journal Title
Journal ISSN
Volume Title
Publisher
Nature Publishing Group
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.
Description
Keywords
Genome sequencing, Genetic character, Whole-genome, Genomic diversity, African populations
Citation
Choudhury, A. et al. (2017). Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans. Nature Communications, 8: 2062