The DOI matches its Crossref record; 80 of the 80 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“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
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Introduction to Quantitative Genetics.
Edwards, A. W. F., & Falconer, D. S. (1982) · Biometrics · doi:10.2307/2529912 · Cited by 21,447
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
XV.—The Correlation between Relatives on the Supposition of Mendelian Inheritance.
Fisher, R. A. (1919) · Transactions of the Royal Society of Edinburgh · doi:10.1017/s0080456800012163 · Cited by 4,387
The hitch-hiking effect of a favourable gene
Smith, J. M., & Haigh, J. (1974) · Genetical Research · doi:10.1017/s0016672300014634 · Cited by 3,415 · cited 1×
“The standard approaches to detecting selection in population genetic data have been strongly shaped by the classical hitch-hiking model explored in detail by Maynard Smith and Haigh [40].”
A Map of Recent Positive Selection in the Human Genome
Voight, B. F., Kudaravalli, S., Wen, X., & Pritchard, J. K. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040072 · Cited by 2,925 · cited 1×
“These include signals of partial sweeps [20], reduced diversity at putatively neutral sites [28,29] and an excess of SNPs with extreme population differentiation (high FST) within genes (Figure 1A) [30].”
Self-citationThe hitch-hiking effect of a favourable gene
Smith, J. M., & Haigh, J. (2007) · Genetics Research · doi:10.1017/s0016672308009579 · Cited by 2,675
Genome-wide detection and characterization of positive selection in human populations
The International HapMap Consortium, Sabeti, P. C., Varilly, P., Fry, B., Lohmueller, J., Hostetter, E., Cotsapas, C., Xie, X., Byrne, E. H., McCarroll, S. A., et al. (2007) · Nature · doi:10.1038/nature06250 · Cited by 2,131
Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation
Li, J. Z., Absher, D. M., Tang, H., Southwick, A. M., Casto, A. M., Ramachandran, S., Cann, H. M., Barsh, G. S., Feldman, M. W., Cavalli-Sforza, L. L., et al. (2008) · Science · doi:10.1126/science.1153717 · Cited by 1,915
The effect of deleterious mutations on neutral molecular variation.
Charlesworth, B., Morgan, M. T., & Charlesworth, D. (1993) · Genetics · doi:10.1093/genetics/134.4.1289 · Cited by 1,814 · cited 2×
“Taken together, these observations are most easily explained by either widespread positive selection, or possibly by background selection against mildly deleterious alleles [29,32].”
Effective population size and patterns of molecular evolution and variation
Charlesworth, B. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2526 · Cited by 1,743
Cited by
Sorted by citations
Items 901–928 of 928
Roseman, C. C., & Weaver, T. D. (2026) · Cambridge University Press eBooks · doi:10.1017/9781316756492.021
Cowgill, L. W., & Maddux, S. D. (2026) · Cambridge University Press eBooks · doi:10.1017/9781316756492.017
Nakamichi, R., Thorne, J. L., & Kishino, H. (2026) · Molecular Biology and Evolution · doi:10.1093/molbev/msag118
“Single locus methods lack power to detect selection on highly polygenic traits with many QTLs, each of which has experienced mild selection (Pritchard et al. 2010).”
Zhao, Z., Nie, R., Fan, H., Ngodroup, T., Zhu, L., Pan, H., Zhang, B., & Zhang, H. L. (2026) · Advanced Science · doi:10.1002/advs.202522994 · Cited by 1
“Second, the composite selection score is most sensitive to strong, recent sweeps; polygenic adaptation and soft sweeps on standing variation would largely escape detection [ 83, 89, 90 ], and the 223 candidates therefore represent a lower bound.”
Bist, B. S., Farleigh, K., Jiménez, F. A., Nielsen, C. K., & Ježková, T. (2026) · Journal of Mammalogy · doi:10.1093/jmammal/gyag032
Dallaire, X., Beemelmanns, A., Harris, L., Gallagher, C. P., Tallman, R. F., & Moore, J. (2026) · Evolutionary Applications · doi:10.1111/eva.70259
“First, polygenic traits are expected to create weak selection signals (as identified in this study) that do not necessarily differ from neutral population structure (Pritchard et al. 2010).”
Cross, C. N., Lisi, A., Simmonds, F. C., Flores, M. F., Washington, K. N., Heinbockel, T., & Campbell, M. C. (2026) · BMC Biology · doi:10.1186/s12915-026-02623-6
“Under this model, no single favored mutation sweeps to fixation [107, 108]; instead, beneficial alleles at different nucleotide sites increase in frequency, simultaneously undergoing incomplete selective sweeps.”
Kwakye, A., Sanda, M. K., Oke, K. B., Heins, D. C., Bell, M. A., Reid, K., & Veeramah, K. R. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.29.728866
“…are numerous examples of rapid adaptation resulting from selection on standing genetic variation (SGV) (Cresko et al. 2004; Colosimo et al. 2005; Franks et al. 2007; Barrett and Schluter 2008; Pritchard et al. 2010; Hermisson and Pennings 2017; Schrider and Kern 2017; Roberts Kingman et al. 2021).”
Mazzucco, R., & Schlötterer, C. (2026) · Genome Biology and Evolution · doi:10.1093/gbe/evag132
“When many loci of individually small effect contribute to a selected phenotype, the resulting genomic signatures of adaptation are notoriously difficult to distinguish from the effects of genetic drift, even in large populations (Pritchard et al. 2010; Hayward and Sella 2022).”
Singh, S. P., Mukherjee, S., Vyas, J., Ilayaraja, I., Muansangi, L., & Mukherjee, A. (2026) · The Nucleus · doi:10.1007/s13237-026-00688-w
Male chickadees with better spatial cognition sire more extra-pair youngPreprint
Branch, C. L., Sonnenberg, B. R., Welklin, J. F., Butcher, B. G., Heinen, V. K., Pitera, A. M., Benedict, L. M., Bridge, E. S., Lovette, I. J., Webster, M. S., et al. (2026) · eLife · doi:10.7554/elife.110905.1
Male chickadees with better spatial cognition sire more extra-pair youngPreprint
Branch, C. L., Sonnenberg, B. R., Welklin, J. F., Butcher, B. G., Heinen, V. K., Pitera, A. M., Benedict, L. M., Bridge, E. S., Lovette, I. J., Webster, M. S., et al. (2026) · eLife · doi:10.7554/elife.110905
Taheri, S., Karimi, M. O., Saedi, N., Zerehdaran, S., Shariati, M. M., Gholizadeh, M., & Javadmanesh, A. (2026) · PLoS ONE · doi:10.1371/journal.pone.0350262
“Several genomic regions related to body size, reproductive performance, morphological traits, and skeletal morphology have been identified in these studies, which have been targeted via both artificial and natural selection during domestication [20].”
The interaction of biological network topology and mutation effects in complex trait evolution
Gouy, A. (2026) · Frontiers in Systems Biology · doi:10.3389/fsysb.2026.1845370
Pégard, M., Lachmuth, S., Sampoux, J., Blanco‐Pastor, J. L., Barré, P., & Fitzpatrick, M. C. (2026) · Molecular Ecology · doi:10.1111/mec.70463
“More fundamentally, both CANCOR and GF identify loci with statistically detectable individual effects, whereas a substantial part of the genetic variance of adaptive traits is typically dispersed across many small-effect variants (Boyle et al. 2017; Pritchard et al. 2010).”
Haplotype structure: an overlooked key factor shaping the genomic selection response
Xiao, C., Nolte, V., & Schlötterer, C. (2026) · Genetics · doi:10.1093/genetics/iyag181
“Unlike oligogenic traits—where a few contributing loci sweep to high fre-quencies—polygenic traits typically adapt through small allele frequency shifts at many loci (Pritchard et al. 2010; Pritchard and Di Rienzo 2010; Barghi et al. 2020).”
What has population genomics told us about the dynamics of selection and plant adaptation?
Gaut, B. S., Wright, S., Wang, T., & Morrell, P. L. (2026) · Molecular Biology and Evolution · doi:10.1093/molbev/msag171
“Polygenic adaptation is evolutionary change driven by simultaneous selection on variants at many loci, each contributing a small effect to a quantitative trait (Pritchard et al. 2010).”
Francolini, R. D., Sleith, R. S., Cammen, K. M., Brady, D. C. E., & Rasher, D. B. (2026) · Journal of Phycology · doi:10.1111/jpy.70219
“…have mixed ancestry from a defined number of pop ulations ( K ), and the LocPrior algorithm assumes in dividuals from the same sampling location are likely from the same population and is thus able to detect fine scale structuring between samples (Hubisz et al., 2009; Pritchard et al., 2010).”
Neto, C., Baussay, A., & Neve, P. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.08.18.745463
“…pattern is consistent with models of adaptation from standing genetic variation, in which resistance evolves through simultaneous selection on many loci rather than reliance on a single mutation (Barghi et al., 2020; Délye, 2013; Gaines et al., 2020; Höllinger et al., 2019; Pritchard et al., 2010).”
Hu, R., Chen, W., Ding, Z., Zheng, L., (4829), Y. L., Wang, C., Ai, G., Fang, C., He, S., & Yang, L. (2026) · Aquatic Diversity and Ecology · doi:10.1016/j.ade.2026.100024
Genomic insights into natural selection in recent human history
Skoglund, P., & Mathieson, I. (2026) · Nature Reviews Genetics · doi:10.1038/s41576-026-01010-9
Xu, S., Wolinska, J., Dziuba, M. K., Cerbin, S., Möst, M., & Meester, L. D. (2026) · Limnology and Oceanography · doi:10.1002/lno.70498
“…variation can proceed more rapidly because bene fi cial alleles are already present before environmental change, and is characterized by allele-frequency shifts at pre-existing polymorphisms, often without strong reductions in genetic diversity (Barrett and Schluter 2008; Pritchard et al. 2010).”
Poikela, N., Snook, R. R., Kulmuni, J., & Ritchie, M. G. (2026) · PLoS Biology · doi:10.1371/journal.pbio.3004028
“…lines compared to the control lines, pinpointing actual targets of selection is challenging during the early stages of introgression due to the hitchhiking of neutral SNPs in large linkage blocks [72], and because polygenic adaptation typically involves minor shifts in allele frequencies [73].”
Benestan, L., Quinn, B. K., Maaroufi, H., Laporte, M., Clark, F. K., Greenwood, S. J., Rochette, R., & Bernatchez, L. (2016) · Data Archiving and Networked Services (DANS) · doi:10.5061/dryad.5vb8v.1
Male chickadees with better spatial cognition sire more extra-pair youngPreprint
Branch, C. L., Sonnenberg, B. R., Welklin, J. F., Butcher, B. G., Heinen, V. K., Pitera, A. M., Benedict, L. M., Bridge, E. S., Lovette, I. J., Webster, M. S., et al. (2026) · eLife · doi:10.7554/elife.110905.2
What constrains directional selection on complex traits in the wild
Mojica, J. P. (2011) · KU ScholarWorks (The University of Kansas)
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
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 ›
Are you an author, or do you see a problem with this page? Request a review
