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Nature Research, Nature, 7624(538), p. 238-242, 2016

DOI: 10.1038/nature19792

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Genomic analyses inform on migration events during the peopling of Eurasia

Journal article published in 2016 by Mc Westaway, Jts Wee, Luca Pagani ORCID, Daniel John Lawson, Evelyn Jagoda, Alexander Mörseburg, Anders Eriksson, Christina L. Scheib, Mario Mitt, Florian Clemente, Georgi Hudjashov, Gnn Sultana, Michael DeGiorgio, Lauri Saag, Jeffrey D. Wall and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

High-Coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long-and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago. © 2016 Macmillan Publishers Limited, part of Springer Nature.