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Insights into human genetic variation and population history from 929 diverse genomes
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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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“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”
From Human genetic adaptation related to cellular zinc homeostasis (2023) · cites this paper as [37]
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Metadata
- 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
- Venue
- Science
- Published
- 2020-03-20
- Volume
- 367
- Issue
- 6484
- Pages
- eaay5012
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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