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

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 +13 more·2020·Science

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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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  • Using Mbuti as an outgroup, the S prime statistic detected SLC30A9 as a candidate for introgression in both Europeans and East Asian samples from HGDP-CEPH.

    “we next computed the S prime statistic [31] in the Europeans and East Asian samples available in the Human Genome Diversity Panel (HGDP-CEPH) [37], using the Mbuti as an outgroup, and detected the SLC30A9 as a candidate for introgression in both groupings”

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  1. [43]Simons GF Fennig CD Ethnologue: Languages of the World 2018 Twenty-first edition

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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
Venue
Science
Published
2020-03-20
Volume
367
Issue
6484
Pages
eaay5012
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
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 · 2019: 6 · 2018: 2 · 2017: 1
FWCI
69.22
Type
journal article
Language
en
Open access
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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