A team of Wits scientists is leading an ambitious project to analyse hundreds of human genomes from African populations, paving the way to a better understanding of the complex interplay between genetic variation and disease, reports Business Day.
Michèle Ramsay, director of the Sydney Brenner Institute for Molecular Bioscience at Wits and lead author of a study published recently in Nature, said Africa is the anatomical home of modern humans and boasts the greatest genetic diversity, yet until now less than 2% of the human genomes sequenced came from people on this continent.
Global genomic databases and research studies have been dominated by people of European ancestry, she noted.
“It’s a missed opportunity because we don’t have enough data from the people who could provide the most information to advance science and our understanding of health processes,” Ramsay said.
“As a result, the genetic patterns guiding modern medicine are very Eurocentric and poorly predict disease in African populations,” she added.
It is crucial the AI models being developed for tasks such as early disease detection include genetic information from African populations.
“If we don’t feed the AI algorithms with African data, what we get is going to be biased,” she said.
The Assessing Genetic Diversity in Africa (AGenDA) project, run under the Human Heredity and Health in Africa (H3Africa) consortium, identified under-represented groups spanning eight countries for human whole-genome sequencing.
Covering the roughly 2 000 ethno-linguistic groups in Africa would have required sequencing hundreds of thousands of genomes, so the scientists focused on five population groups – people with Khoe-San hunter-gatherer ancestry; Niger-Congo-speaking people from central and central-southern Africa; Nilo-Saharan speakers; North African and Afro-Asiatic speakers; and people from the African islands in the southwest Indian Ocean.
Samples were collected from people in Angola, the Democratic Republic of Congo, Kenya, Libya, Mauritius, Rwanda, Tunisia and Zimbabwe, but not South Africa, which has previously contributed material for research on the human genome.
AGenDA’s processes for data governance and data sharing are aligned with World Health Organisation guidance, and the data will be submitted to the European Genome-Phenome Archive. The datasets will be openly accessible to the global research community, and a data-access committee will manage requests for access, said Ramsay.
The new data on African genomes are expected to help other scientists deepen their understanding of a wide range of diseases and develop new treatments.
“Because African genomes contain the deepest branches of human genetic history, they help scientists distinguish genetic variants that are ancient from those that arose more recently and help to detect variants that truly influence disease,” said Ramsay.
Study details
World Health Organisation guidance, and the data will be submitted to the European Genome-Phenome Archive
M. Ramsay, H. Etheredge, F. Tluway et al.
Published in Nature on 14 January 2026
Abstract
African populations remain substantially under-represented in research studies and global genomic databases. As the ancestral home of anatomically modern humans, Africa holds pride of place regarding human genetic diversity, with a deep and complex evolution over hundreds of thousands of years of human migration, admixture, and exposure to climate changes and infectious agents. Yet our present view of genomic diversity in Africa is sparse and poorly captures the rich variation across its more than 2,000 ethnolinguistic groups. To enhance representation, the Assessing Genetic Diversity in Africa (AGenDA) project, under the umbrella of the Human Heredity and Health in Africa (H3Africa) consortium, identified under-represented groups across nine different African countries for human whole-genome sequencing, with a view to enriching global datasets. Here we share our processes, including community engagement, obtaining ethics approvals, navigating legal compliance and developing a common governance framework. AGenDA is a testament to the determination of the scientific community to undertake research in challenging environments. It is led from Africa by African investigators who are the decision-makers in data-sharing processes. AGenDA is a step towards greater African representation in global genomic datasets to advance genomic research towards enabling precision medicine for Africa and the world.
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African DNA absent from global genome map, warn scientists
Landmark study of African genomes details human migration and health