Cited by 1,020Forensic and Genetic ResearchGenetic diversity and population structureGenetic Associations and Epidemiology

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Insights into human genetic variation and population history from 929 diverse genomes

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Bergström, Anders, McCarthy, Shane A., Hui, Ruoyun, Almarri, Mohamed A., Ayub, Qasim, Danecek, Petr, Chen, Yuan, Felkel, Sabine, Hallast, Pille, Kamm, Jack, Blanché, Hélène, Deleuze, Jean-François, Cann, Howard, Mallick, Swapan, Reich, David, Sandhu, Manjinder S., Skoglund, Pontus, Scally, Aylwyn, Xue, Yali, Durbin, Richard, Tyler-Smith, Chris·2020·Science

DOI 10.1126/science.aay5012PMC PMC7115999

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Abstract

Genomes from around the globe: Genomic sequencing of diverse human populations to understand overall genetic diversity has lagged behind in-depth examination of specific populations. To add to our understanding of human genetic diversity, Bergström et al. generated whole-genome sequences surveying individuals in the Human Genome Diversity Project, which is a panel of global populations that has been instrumental in understanding the history of human populations. The authors' study adds data about African, Oceanian, and Amerindian populations and indicates that diversity tends to result from differences at the single-nucleotide level rather than copy number variation. An analysis of archaic sequences in modern populations identifies ancestral genetic variation in African populations that likely predates modern humans and has been lost in most non-African populations. Science , this issue p. eaay5012

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Copyright Page
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Abbreviations
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Authors: Bergström, A., McCarthy, S. A., Hui, R., Almarri, M. A., Ayub, Q., Danecek, P., Chen, Y., Felkel, S., Hallast, P., Kamm, J., Blanché, H., Deleuze, J.-F., Cann, H., Mallick, S., Reich, D., Sandhu, M. S., Skoglund, P., Scally, A., Xue, Y., Durbin, R., & Tyler-Smith, C.
Affiliations: The Francis Crick Institute (GB)
University of Cambridge (GB)
Wellcome Sanger Institute (GB)
Monash University Malaysia (MY)
University of Veterinary Medicine Vienna (AT)
Fondation Jean Dausset-CEPH (FR)
Broad Institute (US)
Wellcome Sanger Institute, Hinxton CB10 1SA, UK.
Corresponding author: Bergström, Anders
ORCID: Bergström, Anders
McCarthy, Shane A.
Hui, Ruoyun
Almarri, Mohamed A.
Ayub, Qasim
Danecek, Petr
Chen, Yuan
Felkel, Sabine
Hallast, Pille
Kamm, Jack
Blanché, Hélène
Deleuze, Jean-François
Mallick, Swapan
Reich, David
Skoglund, Pontus
Scally, Aylwyn
Xue, Yali
Durbin, Richard
Tyler-Smith, Chris
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2020-03-20
Volume: 367
Issue: 6484
Pages: eaay5012
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.aay5012
PMC: PMC7115999
OpenAlex: W3011413344
Cited by: 1,020
References: 79
Citations by year: 2026: 167 · 2025: 215 · 2024: 165 · 2023: 145 · 2022: 134 · 2021: 136 · 2020: 48
FWCI: 69.22
Type: journal article
Language: en
Open access: green
doi.org
Licence: cc-by-nc-nd
Locations: Science (publishedVersion)
bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
HAL (submittedVersion, other-oa)
Apollo (University of Cambridge) (submittedVersion)
UEA Digital Repository (University of East Anglia) (submittedVersion)
Apollo
Funders: Wellcome (098051)
Gates Cambridge Trust
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: human genetic variation, demographic history, human population structure, population divergence, Southern Africa, Central Africa, Oceania, Americas, hunter-gatherers, farmers, population size history, Neanderthal admixture, Denisovan admixture
MeSH terms: Whole Genome Sequencing, Africa, Americas, Animals, Asia, Genetics, Population, Haplotypes, Humans, Phylogeny, Population Density, Genetic Variation, Hominidae, Genome, Human, Polymorphism, Single Nucleotide, Oceania, Racial Groups, INDEL Mutation, DNA Copy Number Variations, Neanderthals

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Insights into human genetic variation and population history from 929 diverse genomes

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