| Literature DB >> 32193295 |
Shane A McCarthy1,2, Ruoyun Hui2,3, Mohamed A Almarri1, Yali Xue1, Richard Durbin1,2, Chris Tyler-Smith4, Anders Bergström4,5, Qasim Ayub1,6,7, Petr Danecek1, Yuan Chen1, Sabine Felkel1,8, Pille Hallast1,9, Jack Kamm1,2,10, Hélène Blanché11,12, Jean-François Deleuze11,12, Howard Cann11, Swapan Mallick13,14, David Reich13,14, Manjinder S Sandhu1,15, Pontus Skoglund5, Aylwyn Scally2.
Abstract
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.Entities:
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Year: 2020 PMID: 32193295 PMCID: PMC7115999 DOI: 10.1126/science.aay5012
Source DB: PubMed Journal: Science ISSN: 0036-8075 Impact factor: 47.728