Insights into human genetic variation and population history from 929 diverse genomesMore about Open Access at the Crick
Authors listAnders Bergstrom Shane A McCarthy Ruoyun Hui Mohamed A Almarri Qasim Ayub Petr Danecek Yuan Chen Sabine Felkel Pille Hallast Jack Kamm Hélène Blanché Jean-François Deleuze Howard Cann Swapan Mallick David Reich Manjinder S Sandhu Pontus Skoglund Aylwyn Scally Yali Xue Richard Durbin Chris Tyler-Smith
Genome sequences from diverse human groups are needed to understand the structure of genetic variation in our species and the history of, and relationships between, different populations. We present 929 high-coverage genome sequences from 54 diverse human populations, 26 of which are physically phased using linked-read sequencing. Analyses of these genomes reveal an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, but an absence of such variants fixed between major geographical regions. We also find deep and gradual population separations within Africa, contrasting population size histories between hunter-gatherer and agriculturalist groups in the past 10,000 years, and a contrast between single Neanderthal but multiple Denisovan source populations contributing to present-day human populations.
Issue number 6484
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Publisher website (DOI) 10.1126/science.aay5012
Europe PubMed Central 32193295
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