期刊
NATURE
卷 538, 期 7624, 页码 238-+出版社
NATURE PORTFOLIO
DOI: 10.1038/nature19792
关键词
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资金
- Estonian Research Infrastructure Roadmap grant [3.2.0304.11-0312]
- Australian Research Council [DP110102635, DP140101405]
- Danish National Research Foundation
- Lundbeck Foundation
- ERC [FP7 - 261213]
- Estonian Research Council [PUT766]
- EU European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre
- Centre of Excellence for Genomics and Translational Medicine Project [2014-2020.4.01.15-0012]
- Estonian Institutional Research grant [IUT24-1]
- French Ministry of Foreign and European Affairs
- French ANR grant [ANR-14-CE31-0013-01]
- Gates Cambridge Trust
- ICG SB RAS [VI.58.1.1]
- Leverhulme Programme grant [RP2011-R-045]
- Ministry of Education and Science of Russia [6.656.2014/K]
- NEFREX grant - European Union (People Marie Curie Actions
- International Research Staff Exchange Scheme) [318979]
- NIH [5DP1ES022577 05, 1R01DK104339-01, 1R01GM113657-01]
- Russian Foundation for Basic Research [N 14-06-00180a, 16-04-00890, 14-04-00725-a, 16-06-00303]
- Russian Science Foundation [14-14-00827]
- Russian Humanitarian Scientific Foundation [13-11-02014]
- Program of the Basic Research of the RAS Presidium Biological diversity
- Wellcome Trust
- Royal Society [WT104125AIA]
- Bristol Advanced Computing Research Centre
- Wellcome Trust [098051, 100719/Z/12/Z]
- Young Explorers Grant from the National Geographic Society [8900-11]
- ERC Consolidator Grant [647787]
- RAS Presidium Basic research for the development of the Russian Arctic
- Rutherford Fellowship from the Royal Society of New Zealand [RDF-10-MAU-001]
- [KU2016]
- BBSRC [BB/H005854/1] Funding Source: UKRI
- MRC [MC_UU_12013/1] Funding Source: UKRI
- Russian Science Foundation [14-14-00827] Funding Source: Russian Science Foundation
- Biotechnology and Biological Sciences Research Council [BB/H005854/1] Funding Source: researchfish
- Medical Research Council [MC_UU_12013/1] Funding Source: researchfish
High-coverage whole-genome sequence studies have so far focused on a limited number(1) of geographically restricted populations(2-5), or been targeted at specific diseases, such as cancer(6). Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history(7-9) and refuelled the debate on the mutation rate in humans(10). 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(11), and admixture between AMHs and Neanderthals predating the main Eurasian expansion(12), our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.
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