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The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

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2016

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Springer Nature
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Mallick, Swapan, Heng Li, Mark Lipson, Iain Mathieson, Melissa Gymrek, Fernando Racimo, Mengyao Zhao, et al. 2016. “The Simons Genome Diversity Project: 300 Genomes from 142 Diverse Populations.” Nature 538 (7624) (September 21): 201–206. doi:10.1038/nature18964. http://dx.doi.org/10.1038/nature18964.

Abstract

We report the Simons Genome Diversity Project (SGDP) dataset: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioral modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that in other non-Africans.

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genetics, genetic variation

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