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

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Résumé

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. Deep whole-genome sequencing of 300 individuals from 142 diverse populations provides insights into key population genetic parameters, shows that all modern human ancestry outside of Africa including in Australasians is consistent with descending from a single founding population, and suggests a higher rate of accumulation of mutations in non-Africans compared to Africans since divergence. Three international collaborations reporting in this issue of Nature describe 787 high-quality genomes from individuals from geographically diverse populations. David Reich and colleagues analysed whole-genome sequences of 300 individuals from 142 populations. Their findings include an accelerated estimated rate of accumulation of mutations in non-Africans compared to Africans since divergence, and that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans but from the same source as that of other non-Africans. Eske Willerlsev and colleagues obtained whole-genome data for 83 Aboriginal Australians and 25 Papuans from the New Guinea Highlands. They estimate that Aboriginal Australians and Papuans diverged from Eurasian populations 51,000–72,000 years ago, following a single out-of-Africa dispersal. Luca Pagani et al. report on a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations. Their analyses support the model by which all non-African populations derive most of their genetic ancestry from a single recent migration out of Africa, although a Papuan contribution suggests a trace of an earlier human expansion.

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La notice

Revue

Nature

Thématique

Forensic and Genetic Research

Domaine

Biochemistry, Genetics and Molecular Biology

Établissements canadiens

Université de MontréalCentre Hospitalier Universitaire Sainte-Justine

Organismes subventionnaires

National Institute of General Medical SciencesNational Institute of Diabetes and Digestive and Kidney DiseasesSimons Foundation Autism Research InitiativeBiotechnology and Biological Sciences Research CouncilTartu ÜlikoolNational Institute of Environmental Health SciencesMax-Planck-GesellschaftEuropean Regional Development FundEuropean CommissionRussian Foundation for Basic ResearchNational Center for Advancing Translational SciencesNational Human Genome Research InstituteWellcome TrustNational Institutes of HealthVetenskapsrådetEesti TeadusagentuurNational Science Foundation

Mots-clés

Genome1000 Genomes ProjectEvolutionary biologyHuman genomeBiological dispersalBiologyDivergence (linguistics)IndigenousGenealogyGeographyGeneticsHistoryPopulationEcologyDemographyGeneSociology

Résumé présent dans OpenAlex

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