4.8 Article

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

期刊

NATURE
卷 538, 期 7624, 页码 201-+

出版社

NATURE PORTFOLIO
DOI: 10.1038/nature18964

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资金

  1. Simons Foundation [SFARI 280376]
  2. US National Science Foundation [BCS-1032255]
  3. Human Frontier Science program [LT001095/2014]
  4. Wenner-Gren foundation
  5. Swedish Research Council (VR) [2014-453]
  6. NIJ [2014-DN-BX-K089]
  7. Career Award at the Scientific Interface from the Burroughs Wellcome Fund
  8. Natural Sciences and Engineering Research Council of Canada
  9. ERC [FP7- 261213]
  10. Russian Foundation for Basic Research [15-04-02543, 16-34-00599, 11-04-00725-a, 16-06-00303, 16-04-00890]
  11. Russian Scientific Fund [14-04-00827]
  12. Estonian Research Council
  13. European Regional Development Fund (European Union) through the Centre of Excellence in Genomics to Estonian Biocentre
  14. University of Tartu
  15. Spanish MINECO [CGL-44351-P]
  16. NIH [GM59290, 5DPIES022577 05, 1R01DK104339-01, 1R01GM113657-01, R01-GM094402, GM100233]
  17. Wellcome Trust [093051]
  18. NSF [0924726, 1153911]
  19. CSIR Network Project grant [GENESIS: BSC0121]
  20. Packard Fellowship for Science and Engineering
  21. Max Planck Society
  22. BBSRC [BB/H008802/1, BB/H008802/2] Funding Source: UKRI
  23. Russian Science Foundation [14-14-00827] Funding Source: Russian Science Foundation
  24. Biotechnology and Biological Sciences Research Council [BB/H008802/1, BB/H008802/2] Funding Source: researchfish
  25. Direct For Social, Behav & Economic Scie
  26. Division Of Behavioral and Cognitive Sci [1032255] Funding Source: National Science Foundation
  27. Division Of Behavioral and Cognitive Sci
  28. Direct For Social, Behav & Economic Scie [1153911, 0924726] Funding Source: National Science Foundation

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Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.

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