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The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation
Open accessAbstract
There has long been interest in understanding the genetic basis of human adaptation. To what extent are phenotypic differences among human populations driven by natural selection? With the recent arrival of large genome-wide data sets on human variation, there is now unprecedented opportunity for progress on this type of question. Several lines of evidence argue for an important role of positive selection in shaping human variation and differences among populations. These include studies of comparative morphology and physiology, as well as population genetic studies of candidate loci and genome-wide data. However, the data also suggest that it is unusual for strong selection to drive new mutations rapidly to fixation in particular populations (the 'hard sweep' model). We argue, instead, for alternatives to the hard sweep model: in particular, polygenic adaptation could allow rapid adaptation while not producing classical signatures of selective sweeps. We close by discussing some of the likely opportunities for progress in the field.
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“As previously noted (Hawks et al. 2007;Karasov et al. 2010;Pritchard et al. 2010), effective population size is one of the most important factors limiting the availability of adaptive mutations.”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Pritchard et al. 2010
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Additional file 1 of Divergent patterns of selection on metabolite levels and gene expression
Kern, A., Yang, G. X., Khosla, N. M., Ang, R. M. L., Snyder, M. P., & Fraser, H. B. (2021) · Figshare · doi:10.6084/m9.figshare.16702978
Additional file 5 of Divergent patterns of selection on metabolite levels and gene expression
Kern, A., Yang, G. X., Khosla, N. M., Ang, R. M. L., Snyder, M. P., & Fraser, H. B. (2021) · Figshare · doi:10.6084/m9.figshare.16702996
Otte, K. A., Nolte, V., Mallard, F., & Schlötterer, C. (2021) · Figshare · doi:10.6084/m9.figshare.14998766
Additional file 4 of Divergent patterns of selection on metabolite levels and gene expression
Kern, A., Yang, G. X., Khosla, N. M., Ang, R. M. L., Snyder, M. P., & Fraser, H. B. (2021) · Figshare · doi:10.6084/m9.figshare.16702993
Otte, K. A., Nolte, V., Mallard, F., & Schlötterer, C. (2021) · Figshare · doi:10.6084/m9.figshare.14998772
Additional file 3 of Divergent patterns of selection on metabolite levels and gene expression
Kern, A., Yang, G. X., Khosla, N. M., Ang, R. M. L., Snyder, M. P., & Fraser, H. B. (2021) · Figshare · doi:10.6084/m9.figshare.16702987
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Additional file 2 of Divergent patterns of selection on metabolite levels and gene expression
Kern, A., Yang, G. X., Khosla, N. M., Ang, R. M. L., Snyder, M. P., & Fraser, H. B. (2021) · Figshare · doi:10.6084/m9.figshare.16702984
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Metadata
- Authors
- Pritchard, J. K., Pickrell, J. K., & Coop, G.
- Affiliations
- Howard Hughes Medical Institute (US)
- University of Chicago (US)
- University of California, Davis (US)
- Corresponding author
- Pritchard, Jonathan K.
- Venue
- Current Biology
- Publisher
- Elsevier BV
- Published
- 2010-02
- Volume
- 20
- Issue
- 4
- Pages
- R208-R215
- ISSN
- 0960-9822 (ISSN-L)
- PMC
- PMC2994553
- OpenAlex
- W2135370544
- Cited by
- 932
- References
- 80
- Citations by year
- 2026: 46 · 2025: 35 · 2024: 38 · 2023: 46 · 2022: 47 · 2021: 69 · 2020: 64 · 2019: 63 · 2018: 72 · 2017: 54 · 2016: 73 · 2015: 69 · 2014: 72 · 2013: 51 · 2012: 64
- FWCI
- 32.95
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Current Biology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health
- National Institute of Mental Health (R01MH084703)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- human adaptation, positive selection, hard sweeps, soft sweeps, polygenic adaptation, selective sweeps, human population variation, natural selection, candidate loci
- MeSH terms
- Adaptation, Biological, Genetics, Population, Humans, Selection, Genetic, Multifactorial Inheritance
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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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