The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Genome-wide detection and characterization of positive selection in human populations
Open accessAbstract
With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.
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 source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Recently, Sabeti et al.99,100 and Voight et al.101 developed computationally efficient methods for detecting evidence of selection in whole genomes and have applied those methods to the HapMap populations.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [100]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Similar to other studies conducted in EUR [34, 35], we did not identify SNP-h2 enrichment for positive selection signatures in our EAS and EUR analyses (Additional file 1: Table S4).”
From Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations (2022) · cites this paper as [35]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The SLC30A9 gene (chr4: 41,990,502–42,090,461; GRCh38) has been repeatedly reported as a top candidate region for positive selection in several genome-wide scans of selection, mostly in East Asian populations [14,16–20].”
From Human genetic adaptation related to cellular zinc homeostasis (2023) · cites this paper as [19]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Most of these genes have geospatial patterns of genetic variation that are correlated with the geographic distribution of skin pigmentation and display strong evidence for selective sweeps in European and East Asian populations (Izagirre et al. 2006;McEvoy et al. 2006;Soejima et al. 2006;Voight et al. 2006;Lao et al. 2007;Myles et al. 2007;Norton et al. 2007;Sabeti et al. 2007;Williamson et al. 2”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Sabeti et al. 2007
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“A defined allelic variant of EDAR within these populations leads to a coding change in the death domain of EDAR and is a candidate allele for altered gene function that could have lead to the region being fixed in these populations [34].”
From Zebrafish eda and edar Mutants Reveal Conserved and Ancestral Roles of Ectodysplasin Signaling in Vertebrates (2008) · cites this paper as [34]
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“However, similar to previous studies [34, 35], none of the positive-selection annotations tested was significant in the two populations tested.”
From Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations (2022) · cites this paper as [35]
Experimental — accuracy not yet measuredIn the citing paper
“The strongest dietary adaptive signal in the human genome is the highly structured global distribution and extended homozygosity around the lactase persistence allele in European genomes35.”
From Genome flux and stasis in a five millennium transect of European prehistory (2014) · cites this paper as [35]
In the citing paper
“Selection on this variant was undoubtedly driven by dairying, but despite evidence for milk residues in ceramic vessels from a Körös context in the 6th millenium BC (ref. 36) this variant remains absent throughout the 10 Neolithic/Copper Age stages of our transect.”
From Genome flux and stasis in a five millennium transect of European prehistory (2014) · cites this paper as [35]
In the citing paper
“Selection coefficients are estimated over a defined period”
From Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y (2014) · cites this paper as [1]
In the citing paper
“our approach is insensitive to the frequently unaccounted for uncertainties associated with allele age estimation using molecular or recombination clocks”
From Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y (2014) · cites this paper as [1]
In the citing paper
“selection acting on standing variation can be accommodated”
From Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y (2014) · cites this paper as [1]
In the citing paper
“Interestingly, the heritability of skin pigmentation is very low in Europeans (hg2 = 0.191; N = 1,231), which we think can be explained by reduced genetic variation at skin pigmentation loci due to strong positive selection for lighter skin in Europeans [17,21,38].”
From Investigating the case of human nose shape and climate adaptation (2017) · cites this paper as [38]
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
A New Statistical Method for Haplotype Reconstruction from Population Data
Stephens, M., Smith, N. J. C., & Donnelly, P. (2001) · The American Journal of Human Genetics · doi:10.1086/319501 · Cited by 7,512
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Self-citationSimultaneous Statistical Inference
Miller, R. G. (1981) · Springer series in statistics · doi:10.1007/978-1-4613-8122-8 · Cited by 5,608
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
Comparative Protein Structure Modeling of Genes and Genomes
Martí-Renom, M. A., Stuart, A. C., Fiser, A., Sánchez, R., Melo, F., & Šali, A. (2000) · Annual Review of Biophysics and Biomolecular Structure · doi:10.1146/annurev.biophys.29.1.291 · Cited by 3,169
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
Genetic Structure of Human Populations
Rosenberg, N. A., Pritchard, J. K., Weber, J. L., Cann, H. M., Kidd, K. K., Zhivotovsky, L. A., & Feldman, M. W. (2002) · Science · doi:10.1126/science.1078311 · Cited by 2,222
Detecting recent positive selection in the human genome from haplotype structure
Sabeti, P. C., Reich, D. E., Higgins, J. M., Levine, H. Z. P., Richter, D. J., Schaffner, S. F., Gabriel, S. B., Platko, J. V., Patterson, N. J., McDonald, G. J., et al. (2002) · Nature · doi:10.1038/nature01140 · Cited by 2,106
Self-citationWidespread parallel evolution in sticklebacks by repeated fixation of Ectodysplasin alleles.
Colosimo, P. F., Hosemann, K. E., Balabhadra, S., Villarreal, G., Dickson, M., Grimwood, J., Schmutz, J., Myers, R. M., Schluter, D., & Kingsley, D. M. (2005) · Science · doi:10.1126/science.1107239 · Cited by 1,448
ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures
Landau, M., Mayrose, I., Rosenberg, Y., Glaser, F., Martz, E., Pupko, T., & Ben‐Tal, N. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki370 · Cited by 1,379
Research works printed but not linked: 1
- DeLano, W. L. MacPyMOL: A PyMOL-based Molecular Graphics Application for MacOS X. (DeLano Scientific LLC, Palo Alto, California, USA, 2007)
Cited by
Sorted by citations
Items 801–900 of 1,002
Dyken, J. D. V., & Wade, M. J. (2012) · The American Naturalist · doi:10.1086/664609 · Cited by 29
Molecular Phylogeography of a Human Autosomal Skin Color Locus Under Natural Selection
Canfield, V. A., Berg, A. S., Peckins, S., Wentzel, S. M., Ang, K. C., Oppenheimer, S., & Cheng, K. C. (2013) · G3 Genes Genomes Genetics · doi:10.1534/g3.113.007484 · Cited by 29
Targeting virulence mechanisms for the prevention and therapy of arenaviral hemorrhagic fever
Schelde, L. M., Ansari, A. A., Liang, Y., & Ly, H. (2012) · Antiviral Research · doi:10.1016/j.antiviral.2012.12.003 · Cited by 29
Gould, B. A., & Stinchcombe, J. R. (2016) · Molecular Ecology · doi:10.1111/mec.13643 · Cited by 30
Yasumizu, Y., Sakaue, S., Konuma, T., Ken, S., Matsuda, K., Murakami, Y., Kubo, M., Palamara, P. F., Kamatani, Y., & Okada, Y. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa005 · Cited by 29
A Chronological Atlas of Natural Selection in the Human Genome during the Past Half-million Years
Zhou, H., Hu, S., Matveev, R., Yu, Q., Li, J., Khaitovich, P., Jin, L., Lachmann, M., Stoneking, M., Fu, Q., et al. (2015) · doi:10.1101/018929 · Cited by 28
Enabling interpretable machine learning for biological data with reliability scores
Ahlquist, K. D., Sugden, L. A., & Ramachandran, S. (2023) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1011175 · Cited by 28
The fine-scale genetic structure and evolution of the Japanese population
Takeuchi, F., Katsuya, T., Kimura, R., Nabika, T., Isomura, M., Ohkubo, T., Tabara, Y., Yamamoto, K., Yokota, M., Liu, X., et al. (2017) · PLOS ONE · doi:10.1371/journal.pone.0185487 · Cited by 28
Gouveia, M. H., Bergen, A. W., Borda, V., Nunes, K., Leal, T. P., Ogwang, M. D., Yeboah, E. D., Mensah, J. E., Kinyera, T., Otim, I. O., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008027 · Cited by 29
杨阳, Yang, Y., Adeola, A. C., 谢海兵, 张亚平, Adeola, A. C., Xie, H., & Zhang, Y. (2018) · 动物学研究 · doi:10.24272/j.issn.2095-8137.2018.068 · Cited by 28
Bertolini, F., Schiavo, G., Bovo, S., Sardina, M. T., Mastrangelo, S., Dall’Olio, S., Portolano, B., & Fontanesi, L. (2020) · animal · doi:10.1017/s1751731119003318 · Cited by 28
Reis, L. B., Bakos, R. M., Vianna, F. S. L., Macedo, G. S., Jacovas, V. C., Ribeiro-dos-Santos, A. M., dos Santos, S. E. B., Bakos, L., & Ashton‐Prolla, P. (2020) · BMC Cancer · doi:10.1186/s12885-020-07485-x · Cited by 28
The clarifying role of time series data in the population genetics of HIV
Feder, A. F., Pennings, P. S., & Petrov, D. A. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009050 · Cited by 30
Yao, Y., Pan, Z., Di, R., Liu, Q., Hu, W., Guo, X., He, X., Gan, S., Wang, X., & Chu, M. (2021) · Animals · doi:10.3390/ani11010157 · Cited by 28
Goyache, F., Pérez-Pardal, L., Fernández, I., Traoré, A., Menéndez‐Arias, N. A., & Álvarez, I. (2021) · Gene · doi:10.1016/j.gene.2021.145899 · Cited by 28
Termignoni‐García, F., Kirchman, J. J., Clark, J., & Edwards, S. V. (2021) · Genome Biology and Evolution · doi:10.1093/gbe/evab255 · Cited by 28
Waineina, R. W., Okeno, T. O., Ilatsia, E. D., & Ngeno, K. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.858923 · Cited by 33
Kooverjee, B. B., Soma, P., van der Nest, M. A., Scholtz, M. M., & Neser, F. W. C. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.909012 · Cited by 28
Zhang, J., Richards, Z. T., Adam, A. A. S., Chan, C. X., Shinzato, C., Gilmour, J., Thomas, L., Strugnell, J. M., Miller, D. J., & Cooke, I. (2022) · Molecular Biology and Evolution · doi:10.1093/molbev/msac201 · Cited by 31
Neumann, G. B., Korkuć, P., Arends, D., Wolf, M. J., May, K., König, S., & Brockmann, G. A. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2022.993959 · Cited by 28
Peng, Q., Li, J., Tan, J., Yang, Y., Zhang, M., Wu, S., Liu, Y., Zhang, J., Qin, P., Guan, Y., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1618-6 · Cited by 28
Self-citationA genome scan of recent positive selection signatures in three sheep populations
Zhao, F., Wei, C., Zhang, L., Liu, J., Wang, G., Tao, Z. E. N. G., & Du, L. (2016) · Journal of Integrative Agriculture · doi:10.1016/s2095-3119(15)61080-2 · Cited by 34
Vatsiou, A. I., Bazin, É., & Gaggiotti, O. E. (2016) · BMC Genomics · doi:10.1186/s12864-016-2783-2 · Cited by 28
Characterising private and shared signatures of positive selection in 37 Asian populations
Liu, X., Lu, D., Saw, W., Shaw, P. J., Wangkumhang, P., Ngamphiw, C., Fucharoen, S., Lert-itthiporn, W., Chin-inmanu, K., Chau, T. N. B., et al. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2016.181 · Cited by 28
Talenti, A., Bertolini, F., Pagnacco, G., Pilla, F., Ajmone‐Marsan, P., Rothschild, M. F., & Crepaldi, P. (2017) · Mammalian Genome · doi:10.1007/s00335-017-9678-7 · Cited by 28
Genomic Analysis Suggests KITLG is Responsible for a Roan Pattern in two Pakistani Goat Breeds
Talenti, A., Bertolini, F., Williams, J. K., Moaeen-ud-Din, M., Frattini, S., Coizet, B., Pagnacco, G., Reecy, J. M., Rothschild, M. F., & Crepaldi, P. (2017) · Journal of Heredity · doi:10.1093/jhered/esx093 · Cited by 28
Chen, Z., Zhang, M., Lv, F., Ren, X., Li, W., Liu, M., Nam, K., Bruford, M. W., & Li, M.-H. (2018) · Genome Biology and Evolution · doi:10.1093/gbe/evy085 · Cited by 29
PopHumanScan: the online catalog of human genome adaptation
Murga-Moreno, J., Coronado‐Zamora, M., Bodelόn, A., Barbadilla, A., & Casillas, S. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky959 · Cited by 31
GLIS1, a potential candidate gene affect fat deposition in sheep tail
Luo, R., Zhang, X., Wang, L., Zhang, L., Li, G., & Zheng, Z. (2021) · Molecular Biology Reports · doi:10.1007/s11033-021-06468-w · Cited by 28
Koller, D., Wendt, F. R., Pathak, G. A., De Lillo, A., De Angelis, F., Cabrera-Mendoza, B., Tucci, S., & Polimanti, R. (2022) · BMC Biology · doi:10.1186/s12915-022-01449-2 · Cited by 27
“Cross-population extended haplotype homozygosity (XP-EHH) comparing EAS and EUR ancestries based on 1000 Genomes was also used to detect differential selective pressure since the two populations diverged [35].”
MethodResultInfluentialZhang, C., Li, J., Tian, L., Lu, D., Yuan, K., Yuan, Y., & Xu, S. (2015) · Scientific Reports · doi:10.1038/srep09658 · Cited by 27
Whole-genome resequencing of Hu sheep identifies candidate genes associated with agronomic traits
Zhao, L., Yuan, L., Li, F., Zhang, X., Tian, H., Ma, Z., Zhang, D., Zhang, Y., Zhao, Y., Huang, K., et al. (2024) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2024.03.015 · Cited by 29
Selection signatures for high altitude adaptation in livestock: A review
Tiwari, M., Gujar, G., Shashank, C. G., & Ponsuksili, S. (2024) · Gene · doi:10.1016/j.gene.2024.148757 · Cited by 30
Li, L., Fridley, B. L., Kalari, K. R., Niu, N., Jenkins, G. D., Batzler, A. J., Abo, R., Schaid, D. J., & Wang, L. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-93 · Cited by 28
Inferring Selection Intensity and Allele Age from Multilocus Haplotype Structure
Chen, H., & Slatkin, M. (2013) · G3 Genes Genomes Genetics · doi:10.1534/g3.113.006197 · Cited by 29
Wang, Z., Ma, H., Xu, L., Zhu, B., Liu, Y., Bordbar, F., Chen, Y., Zhang, L., Gao, X., Gao, H., et al. (2019) · Animals · doi:10.3390/ani9060296 · Cited by 27
A selection signatures study among Middle Eastern and European sheep breeds
Eydivandi, S., Roudbar, M. A., Ardestani, S. S., Momen, M. M., & Sahana, G. (2021) · Journal of Animal Breeding and Genetics · doi:10.1111/jbg.12536 · Cited by 27
López, M. E., Cádiz, M. I., Rondeau, E. B., Koop, B. F., & Yañez, J. M. (2021) · Scientific Reports · doi:10.1038/s41598-021-86154-w · Cited by 29
Whiting, J. R., Paris, J. R., van der Zee, M. J., Parsons, P. J., Weigel, D., & Fraser, B. A. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009566 · Cited by 27
Viral hemorrhagic fever: Molecular pathogenesis and current trends of disease management-an update
Mariappan, V., Pratheesh, P., Shanmugam, L., Rao, S. R., & Pillai, A. B. (2021) · Current Research in Virological Science · doi:10.1016/j.crviro.2021.100009 · Cited by 27
Population Genetic Structure and Selection Signature Analysis of Beijing Black Pig
Yang, W., Liu, Z., Zhao, Q., Du, H., Yu, J. P., Wang, H., Liu, X., Liu, H., Jing, X., Hongping, Y., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.860669 · Cited by 27
Natural adaptation and human selection of northeast African sheep genomes
Ahbara, A., Musa, H. H., Robert, C., Abebe, A., Al-Jumaili, A. S., Kebede, A., Latairish, S., Agoub, M. O., Clark, E. L., Hanotte, O., et al. (2022) · Genomics · doi:10.1016/j.ygeno.2022.110448 · Cited by 28
Species range expansion by beneficial mutations
Behrman, K. D., & Kirkpatrick, M. (2010) · Journal of Evolutionary Biology · doi:10.1111/j.1420-9101.2010.02195.x · Cited by 27
Mortensen, H. M., & Euling, S. Y. (2011) · Toxicology and Applied Pharmacology · doi:10.1016/j.taap.2011.01.015 · Cited by 29
Kamitsuji, S., Matsuda, T., Nishimura, K., Endo, S., Wada, C., Watanabe, K., Hasegawa, K., Hishigaki, H., Masuda, M., Kuwahara, Y., et al. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.23 · Cited by 27
Genetic explorations of recent human metabolic adaptations: hypotheses and evidence
Brown, E. A. (2012) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1111/j.1469-185x.2012.00227.x · Cited by 28
Genetic and phenotypic differentiation of an Andean intermediate altitude population
Eichstaedt, C. A., Antão, T., Cardona, A., Pagani, L., Kivisild, T., & Mormina, M. (2015) · Physiological Reports · doi:10.14814/phy2.12376 · Cited by 30
Impacts of nucleotide fixation during soybean domestication and improvement
Zhao, S., Zheng, F., He, W., Wu, H., Pan, S., & Lam, H. (2015) · BMC Plant Biology · doi:10.1186/s12870-015-0463-z · Cited by 27
Coala: an R framework for coalescent simulation
Staab, P. R., & Metzler, D. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw098 · Cited by 28
Recent Positive Selection in Genes of the Mammalian Epidermal Differentiation Complex Locus
Goodwin, Z. A., & Strong, C. D. G. (2017) · Frontiers in Genetics · doi:10.3389/fgene.2016.00227 · Cited by 27
Genomic signatures reveal selection of characteristics within and between Meishan pig populations
Sun, H., Wang, Z., Zhang, Z., Xiao, Q., Mawed, S., Xu, Z., Zhang, X., Yang, H., Zhu, M., Xue, M., et al. (2018) · Animal Genetics · doi:10.1111/age.12642 · Cited by 27
Characterizing the effect of background selection on the polygenicity of brain-related traits
Wendt, F. R., Pathak, G. A., Overstreet, C., Tylee, D. S., Gelernter, J., Atkinson, E. G., & Polimanti, R. (2021) · Genomics · doi:10.1016/j.ygeno.2020.11.032 · Cited by 27
Seu, L., Burt, T. D., Witte, J. S., Martin, J. N., Deeks, S. G., & McCune, J. M. (2012) · Genes & Immunity · doi:10.1038/gene.2011.76 · Cited by 26
Taye, M., Lee, W., Caetano-Anolles, K., Dessie, T., Cho, S., Jong Oh, S., Lee, H.-K., & Kim, H. (2018) · Cogent Food & Agriculture · doi:10.1080/23311932.2018.1552552 · Cited by 26
Aklillu, E., Habtewold, A., Ngaimisi, E., Yimer, G., Mugusi, S. F., Amogne, W., Reuter, T., Meid, A. D., Hoffmann, M. M., & Weiß, J. (2016) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2016.0119 · Cited by 26
Zhao, Q.-B., Liao, R., Sun, H., Zhang, Z., Wang, Q., Yang, C., Zhang, X., & Pan, Y. (2017) · G3 Genes Genomes Genetics · doi:10.1534/g3.117.300382 · Cited by 26
Genomic Divergence in Swedish Warmblood Horses Selected for Equestrian Disciplines
Ablondi, M., Eriksson, S., Tetu, S., Sabbioni, A., Viklund, Å., & Mikko, S. (2019) · Genes · doi:10.3390/genes10120976 · Cited by 34
Schmidt, V. T., Enav, H., Spector, T. D., Youngblut, N. D., & Ley, R. E. (2020) · mSystems · doi:10.1128/msystems.00911-20 · Cited by 26
Selection signatures of Fuzhong Buffalo based on whole-genome sequences
Sun, T., Huang, G., Wang, Z., Teng, S., Cao, Y., Sun, J., Hanif, Q., Chen, N., Lei, C., & Liao, Y. (2020) · BMC Genomics · doi:10.1186/s12864-020-07095-8 · Cited by 26
Detecting Genetic Ancestry and Adaptation in the Taiwanese Han People
Lo, Y.-H., Cheng, H.-C. R., Hsiung, C., Yang, S.-L., Wang, H., Peng, C.-W., Chen, C., Lin, K.-P., Kang, M.-L., Chen, C.-H., et al. (2020) · Molecular Biology and Evolution · doi:10.1093/molbev/msaa276 · Cited by 27
Cho, S., Manjula, P., Kim, M., Cho, E., Lee, D., Lee, S. H., Lee, J. H., & Seo, D. (2021) · Genes · doi:10.3390/genes12060824 · Cited by 27
Alves‐Pereira, A., Zucchi, M. I., Clement, C. R., Viana, J. P. G., Pinheiro, J. B., Veasey, E. A., & de Souza, A. P. (2022) · Scientific Reports · doi:10.1038/s41598-022-05160-8 · Cited by 26
Recent positive selection signatures reveal phenotypic evolution in the Han Chinese population
Luo, H., Zhang, P., Zhang, W., Zheng, Y., Hao, D., Shi, Y., Niu, Y., Song, T., Li, Y., Zhao, S., et al. (2023) · 中国科学通报：英文版 · doi:10.1016/j.scib.2023.08.027 · Cited by 27
Nayak, S. S., Panigrahi, M., Rajawat, D., Ghildiyal, K., Sharma, A., Parida, S., Bhushan, B., Mishra, B., & Dutt, T. (2023) · Mammalian Genome · doi:10.1007/s00335-023-10021-4 · Cited by 27
Rapid Adaptation and Interspecific Introgression in the North American Crop Pest Helicoverpa zea
North, H. L., Fu, Z., Metz, R. P., Stull, M. A., Johnson, C. D., Shirley, X. A., Crumley, K., Reisig, D., Kerns, D. L., Gilligan, T. M., et al. (2024) · Molecular Biology and Evolution · doi:10.1093/molbev/msae129 · Cited by 28
Predicting multiallelic genes using unphased and flanking single nucleotide polymorphisms
Li, S. S., Wang, H., Smith, A. G., Zhang, B., Zhang, X. C., Schoch, G. H., Geraghty, D. E., Hansen, J. A., & Zhao, L. P. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20549 · Cited by 27
Liu, X., Yunus, Y., Lu, D., Aghakhanian, F. F., Saw, W., Deng, L., Ali, M. I., Wang, X., Ghazali, F., Rahman, T. H. A., et al. (2015) · Human Genetics · doi:10.1007/s00439-014-1525-2 · Cited by 27
SSBP2 Variants Are Associated with Survival in Glioblastoma Patients
Xiao, Y., Decker, P. A., Rice, T., Mccoy, L. S., Smirnov, I. V., Patoka, J. S., Hansen, H. M., Wiemels, J. L., Tihan, T., Prados, M. D., et al. (2012) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-11-2778 · Cited by 26
Positive Selection in Alternatively Spliced Exons of Human Genes
Ramensky, V. E., Nurtdinov, R., Neverov, A. D., Mironov, A. A., & Gelfand, M. S. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.017 · Cited by 28
Tan, J., Peng, Q., Li, J., Guan, Y., Zhang, L., Jiao, Y., Yang, Y., Wang, S., & Li, J. (2014) · Science China Life Sciences · doi:10.1007/s11427-014-4654-x · Cited by 26
Pharmacogenomic implications of the evolutionary history of infectious diseases in Africa
Baker, J. L., Shriner, D., Bentley, A. R., & Rotimi, C. N. (2016) · The Pharmacogenomics Journal · doi:10.1038/tpj.2016.78 · Cited by 26
Analysis of selection signatures in the beef cattle genome
Moravčíková, N., Kasarda, R., VOSTRÝ, L., Krupová, Z., Krupa, E., Lehocká, K., Olšanská, B., Trakovická, A., Nádaský, R., Židek, R., et al. (2019) · Czech Journal of Animal Science · doi:10.17221/226/2019-cjas · Cited by 27
The shared genetic architecture of schizophrenia, bipolar disorder and lifespan
Muntané, G., Farré, X., Bosch, E., Martorell, L., Navarro, A., & Vilella, E. (2020) · Human Genetics · doi:10.1007/s00439-020-02213-8 · Cited by 27
Zhang, P., Zhao, Y., Li, C., Lin, M., Dong, L., Zhang, R., Liu, M., Li, K., Zhang, H., Liu, X., et al. (2020) · iScience · doi:10.1016/j.isci.2020.101640 · Cited by 26
Adaptive selection of an incretin gene in Eurasian populationsPreprint
Chang, C. L., Cai, J. J., Lo, C., Amigo, J., Park, J.-I., & Hsu, S. Y. (2010) · Genome Research · doi:10.1101/gr.110593.110 · Cited by 26
Ancestral Origins and Admixture History of Kazakhs
Lei, C., Liu, J., Zhang, R., Pan, Y., Lü, Y., Gao, Y., Ma, X., Yang, Y., Guan, Y., Mamatyusupu, D., et al. (2024) · Molecular Biology and Evolution · doi:10.1093/molbev/msae144 · Cited by 25
The role of gene regulatory factors in the evolutionary history of humans
Perdomo-Sabogal, Á., Kanton, S., Walter, M. B. C., & Nowick, K. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2014.08.007 · Cited by 25
SNP@Evolution: a hierarchical database of positive selection on the human genome
Cheng, F., Chen, W., Richards, E. G., Deng, L., & Zeng, C. (2009) · BMC Evolutionary Biology · doi:10.1186/1471-2148-9-221 · Cited by 25
郑王山, Guo, Y.-B., 何耀喜, 崔超英, Baima, K., Duoji, Z., 彭忆, 白彩娟, 多吉卓玛, 龚嘎蓝孜, et al. (2017) · 动物学研究 · doi:10.24272/j.issn.2095-8137.2017.037 · Cited by 25
Beyond SNP s: how to detect selection on transposable element insertions
Villanueva‐Cañas, J. L., Rech, G. E., de Cara, M. Á. R., & González, J. (2017) · Methods in Ecology and Evolution · doi:10.1111/2041-210x.12781 · Cited by 27
Genetic signatures of high-altitude adaptation and geographic distribution in Tibetan sheep
Liu, J., Yuan, C., Guo, T., Wang, F., Zeng, Y., Ding, X., Lu, Z., Dingkao, R., Zhang, H., Xu, X., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-75428-4 · Cited by 25
Fu, W., Wang, R., Yu, J., Hu, D., Cai, Y., Shao, J., & Jiang, Y. (2021) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2021.03.003 · Cited by 25
Kivisild, T., Saag, L., Hui, R., Biagini, S. A., Pankratov, V., D’Atanasio, E., Pagani, L., Saag, L., Rootsi, S., Mägi, R., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.07.012 · Cited by 26
Tyagi, S. K., Mehrotra, A., Singh, A., Kumar, A., Dutt, T., Mishra, B. P., & Pandey, A. K. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.673697 · Cited by 25
Jun, M., Gao, X., Li, J., Gao, H., Wang, Z., Zhang, L., Xu, L., Gao, H., Li, H., Wang, Y., et al. (2021) · Animals · doi:10.3390/ani11123469 · Cited by 25
Genetic Diversity and Selective Signature in Dabieshan Cattle Revealed by Whole-Genome Resequencing
Guan, X., Zhao, S., Xiang, W., Jin, H., Chen, N., Lei, C., Jia, Y., & Xu, L. (2022) · Biology · doi:10.3390/biology11091327 · Cited by 25
Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels
André, M., Brucato, N., Hudjashov, G., Pankratov, V., Yermakovich, D., Montinaro, F., Kreevan, R., Kariwiga, J., Muke, J., Boland, A., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-47735-1 · Cited by 27
Detecting positive selection from genome scans of linkage disequilibrium
Huff, C. D., Harpending, H. C., & Rogers, A. R. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-8 · Cited by 25
Kuhn, A., Ong, Y. M., Cheng, C., Wong, T. Y., Quake, S. R., & Burkholder, W. F. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1401532111 · Cited by 27
Geographical Affinities of the HapMap Samples
He, M., Gitschier, J. M., Zerjal, T., de Knijff, P., Tyler‐Smith, C., & Xue, Y. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004684 · Cited by 25
Novel genomic signals of recent selection in an Ethiopian population
Ayele, F. T., Adeyemo, A., Chen, G., Hailu, E., Aseffa, A., Davey, G., Newport, M. J., & Rotimi, C. N. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.233 · Cited by 25
Rodrı́guez, S., Steer, C. D., Farrow, A., Golding, J., & Day, I. N. M. (2013) · Journal of Investigative Dermatology · doi:10.1038/jid.2012.480 · Cited by 25
Li, Y., Zhao, W., Li, D., Tao, X., Xiong, Z., Liu, J., Zhang, W., Ji, A., Tang, K., Liu, F., et al. (2019) · Human Genetics · doi:10.1007/s00439-019-02023-7 · Cited by 25
RetractedHigher Gene Flow in Sex-Related Chromosomes than in Autosomes during Fungal Divergence
Hartmann, F. E., de la Vega, R. C. R., Gladieux, P., Ma, W., Hood, M. E., & Giraud, T. (2019) · Molecular Biology and Evolution · doi:10.1093/molbev/msz252 · Cited by 25
Genome diversity and signatures of natural selection in mainland Southeast Asia
He, Y., Zhang, X., Peng, M., Li, Y.-C., Liu, K., Zhang, Y., Mao, L., Guo, Y., Ma, Y., Zhou, B., et al. (2025) · Nature · doi:10.1038/s41586-025-08998-w · Cited by 24
Wang, P., Zhou, G., Jian, J., Yang, H., Renshaw, D., Aubert, M. K., Clements, J. R., He, T., Sweetingham, M. W., & Li, C. (2020) · The Plant Journal · doi:10.1111/tpj.15100 · Cited by 24
Identification of Major Loci and Candidate Genes for Meat Production-Related Traits in Broilers
Yang, X., Sun, J., Zhao, G., Liu, R., Tan, X., Zheng, M., Feng, F., Liu, D., Wen, J., & Liu, R. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.645107 · Cited by 24
Goodarzi, G., Mozaffari, H., Raeisi, T., Mehravar, F., Razi, B., Ghazi, M. L., Garousi, N., Alizadeh, S., & Janmohammadi, P. (2022) · BMC Cancer · doi:10.1186/s12885-021-09149-w · Cited by 24
Barría, A., Peñaloza, C., Papadopoulou, A., Mahmuddin, M., Doeschl‐Wilson, A., Benzie, J., Houston, R. D., & Wiener, P. (2023) · Evolutionary Applications · doi:10.1111/eva.13560 · Cited by 24
Xu, D., Zhu, W., Wu, Y., Wei, S., Shu, G., Tian, Y., Du, X., Tang, J., Feng, Y., Wu, G., et al. (2023) · BMC Genomics · doi:10.1186/s12864-023-09621-w · Cited by 24
Metadata
- Authors
- 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., Gaudet, R., Schaffner, S. F., & Lander, E. S.
- Affiliations
- Broad Institute (US)
- Harvard University (US)
- ORCID
- Venue
- Nature
- Published
- 2007-10
- Volume
- 449
- Issue
- 7164
- Pages
- 913-918
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2687721
- OpenAlex
- W2156866331
- Cited by
- 2,131
- References
- 34
- Citations by year
- 2026: 96 · 2025: 106 · 2024: 155 · 2023: 98 · 2022: 129 · 2021: 154 · 2020: 125 · 2019: 104 · 2018: 138 · 2017: 109 · 2016: 92 · 2015: 119 · 2014: 100 · 2013: 95 · 2012: 106
- FWCI
- 53.01
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Funders
- Wellcome Trust (081682, 077011, 077008, 077046)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- positive selection, natural selection, human genetic variation, cross-population comparison, non-synonymous single nucleotide polymorphisms, Lassa virus, skin pigmentation, hair follicle development, LARGE, DMD, SLC24A5, SLC45A2, EDAR, EDA2R, candidate regions
- MeSH terms
- Gene Frequency, Genetics, Population, Geography, Haplotypes, Humans, Models, Molecular, Selection, Genetic, Genome, Human, Protein Structure, Tertiary, Antiporters, Polymorphism, Single Nucleotide, Edar Receptor
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
