Genomic analyses inform on migration events during the peopling of Eurasia.

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.

journal_name

Nature

journal_title

Nature

authors

Pagani L,Lawson DJ,Jagoda E,Mörseburg A,Eriksson A,Mitt M,Clemente F,Hudjashov G,DeGiorgio M,Saag L,Wall JD,Cardona A,Mägi R,Wilson Sayres MA,Kaewert S,Inchley C,Scheib CL,Järve M,Karmin M,Jacobs GS,Antao T,Ilie

doi

10.1038/nature19792

subject

Has Abstract

pub_date

2016-10-13 00:00:00

pages

238-242

issue

7624

eissn

0028-0836

issn

1476-4687

journal_volume

538

pub_type

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