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Your Environment. Your Health.

Whole Genome Sequencing Reveals Genetic Basis for Diversity and Evolution

Sarah A. Tishkoff, Ph.D., Timothy R. Rebbeck, Ph.D.
University of Pennsylvania
NIEHS Grants DP1ES022577, P30ES013508


In one of the first population genomics studies to use high-coverage whole-genome sequencing, NIEHS-supported researchers analyzed the genomes of 15 Africans from three different hunter-gatherer groups. The work reveals new insight into human diversity and evolution and also shows the potential of new genome sequencing technology for uncovering the genetic basis of normal variations in humans and for identifying the genetic basis of disease risk.


The researchers sequenced the genomes of men from the Hadza and the Sandawe groups in Tanzania and the Western Pygmies in Cameroon. These three hunter-gather groups differ greatly from one another in appearance, language, culture, and the environments in which they live. The researchers used a high-coverage whole-genome sequencing approach that is highly accurate.


They found 13.4 million genetic variants, five million of which were new to science at the time of discovery. The results from the genome analysis provide evidence that the direct ancestors of modern humans might have interbred with members of an unknown ancestral group of hominids and that different groups evolved distinctly. The work also identifies new candidate genes that are likely involved in making Pygmies short in stature. The researchers say that these candidate genes would not have been found without comparing multiple genomic sequences from these isolated groups.

Citation: Lachance J, Vernot B, Elbers CC, Ferwerda B, Froment A, Bodo JM, Lema G, Fu W, Nyambo TB, Rebbeck TR, Zhang K, Akey JM, Tishkoff SA. 2012. Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers. Cell 150(3):457-469.

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