Genetic variation and adaptation in Africa: implications for human evolution and disease

F Gomez, J Hirbo, SA Tishkoff - Cold Spring Harbor …, 2014 - cshperspectives.cshlp.org
Because modern humans originated in Africa and have adapted to diverse environments,
African populations have high levels of genetic and phenotypic diversity. Thus, genomic …

A “Copernican” reassessment of the human mitochondrial DNA tree from its root

DM Behar, M Van Oven, S Rosset, M Metspalu… - The American Journal of …, 2012 - cell.com
Mutational events along the human mtDNA phylogeny are traditionally identified relative to
the revised Cambridge Reference Sequence, a contemporary European sequence …

Molecular perspectives on the Bantu expansion: a synthesis

B Pakendorf, C de Filippo, K Bostoen - Language Dynamics and Change, 2011 - brill.com
The expansion of Bantu-speaking peoples over large parts of sub-Saharan Africa is still a
matter of debate—not only with respect to the propelling force behind it and the route (s) …

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups

A Kloss‐Brandstätter, D Pacher, S Schönherr… - Human …, 2011 - Wiley Online Library
An ongoing source of controversy in mitochondrial DNA (mtDNA) research is based on the
detection of numerous errors in mtDNA profiles that led to erroneous conclusions and false …

Hunter-gatherer genomic diversity suggests a southern African origin for modern humans

BM Henn, CR Gignoux, M Jobin… - Proceedings of the …, 2011 - National Acad Sciences
Africa is inferred to be the continent of origin for all modern human populations, but the
details of human prehistory and evolution in Africa remain largely obscure owing to the …

Genomic variation in seven Khoe-San groups reveals adaptation and complex African history

CM Schlebusch, P Skoglund, P Sjödin, LM Gattepaille… - Science, 2012 - science.org
The history of click-speaking Khoe-San, and African populations in general, remains poorly
understood. We genotyped∼ 2.3 million single-nucleotide polymorphisms in 220 southern …

Genome-wide analysis of the structure of the South African Coloured Population in the Western Cape

E De Wit, W Delport, CE Rugamika, A Meintjes… - Human genetics, 2010 - Springer
Admixed populations present unique opportunities to discover the genetic factors underlying
many multifactorial diseases. The geographical position and complex history of South Africa …

Genome-wide association study of ancestry-specific TB risk in the South African Coloured population

ER Chimusa, N Zaitlen, M Daya, M Möller… - Human molecular …, 2014 - academic.oup.com
The worldwide burden of tuberculosis (TB) remains an enormous problem, and is
particularly severe in the admixed South African Coloured (SAC) population residing in the …

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

A Choudhury, M Ramsay, S Hazelhurst, S Aron… - Nature …, 2017 - nature.com
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 …

The first modern human dispersals across Africa

T Rito, MB Richards, V Fernandes, F Alshamali… - PloS one, 2013 - journals.plos.org
The emergence of more refined chronologies for climate change and archaeology in
prehistoric Africa, and for the evolution of human mitochondrial DNA (mtDNA), now make it …