Prof. Alan Christoffels

Permanent URI for this collection

Position:	Director of SANBI
Department:	South African National Bioinformatics Institute (SANBI)
Faculty:	Faculty of Natural Sciences
Qualifications:	BSc (Microbiology, Biochemistry) UCT, BSc Hons (Pharmacology) UCT, MedMSc (Genetics) Stellenbosh University, PhD (Bioinformatics) UWC
	My publications in this repository
ORCID:	0000-0002-0420-2916
Researcher ID:	C-3269-2014
More about me:	here, and here
Tel:	021 959 2969
Fax:	021 959 2512
Email:	alan@sanbi.ac.za

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Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans
(Nature Publishing Group, 2017) Choudhury, Ananyo; Christoffels, Alan; Gamieldien, Junaid; Sefid-Dashti, Mahjoubeh J.
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.