Insights into human genetic variation and population history from 929 diverse genomes.
Africa
Americas
Animals
Asia
DNA Copy Number Variations
Genetic Variation
Genetics, Population
Genome, Human
Haplotypes
Hominidae
/ genetics
Humans
INDEL Mutation
Neanderthals
/ genetics
Oceania
Phylogeny
Polymorphism, Single Nucleotide
Population Density
Racial Groups
/ genetics
Whole Genome Sequencing
Journal
Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511
Informations de publication
Date de publication:
20 03 2020
20 03 2020
Historique:
received:
26
06
2019
accepted:
04
02
2020
entrez:
21
3
2020
pubmed:
21
3
2020
medline:
25
3
2020
Statut:
ppublish
Résumé
Genome sequences from diverse human groups are needed to understand the structure of genetic variation in our species and the history of, and relationships between, different populations. We present 929 high-coverage genome sequences from 54 diverse human populations, 26 of which are physically phased using linked-read sequencing. Analyses of these genomes reveal an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, but an absence of such variants fixed between major geographical regions. We also find deep and gradual population separations within Africa, contrasting population size histories between hunter-gatherer and agriculturalist groups in the past 10,000 years, and a contrast between single Neanderthal but multiple Denisovan source populations contributing to present-day human populations.
Identifiants
pubmed: 32193295
pii: 367/6484/eaay5012
doi: 10.1126/science.aay5012
pmc: PMC7115999
mid: EMS93859
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : European Research Council
Pays : International
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : Wellcome Trust
ID : 206194
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 098051
Pays : United Kingdom
Organisme : Medical Research Council,
Pays : International
Organisme : Wellcome Trust
ID : FC001595
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Cancer Research UK
ID : FC001595
Pays : United Kingdom
Organisme : Medical Research Council
ID : FC001595
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 207492
Pays : United Kingdom
Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.
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