An article published on GenomeWeb in December 2014 titled, “African Genome Variation Project Enlightens Population History, Provides Basis for Disease Studies” highlights the collaborative efforts of the Wellcome Trust Sanger Institute, the US National Institutes of Health, the UK Medical Research Council, and other research institutions to analyze the genomes of approximately 1,800 individuals representing 18 ethno-linguistic groups in Western, Eastern and Southern Africa.
Publicly available 1,000 Genomes Project data was used in the analysis of these individual genomes along with sequencing and genotyping array. About 30 million SNPs were identified demonstrating a significant amount of genetic diversity within the populations. This diversity included genetic contributions from Eurasian populations indicating a possible migration up to 10,500 years ago.
This project has also provided meaningful information that could impact the future of medical genetics studies. For example the researchers found known and new susceptibility loci for gene regions associated with malaria, hypertension, sickle cell anemia, Lassa fever and trypanosomiasis. These loci appear to have undergone positive selection in response to the local environment.
Manjinder Sandhu, a researcher at the Sanger Institute and the University of Cambridge and also one of the senior authors of the study published in Nature, stated that the results could serve not only Africans but also provide a better understanding of global disease susceptibility, allowing researchers to identify casual variants by using an approach called trans-ethnic fine-mapping.
The full GenomeWeb article can be accessed from the link below: