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
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
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013
Origins and functional impact of copy number variation in the human genome
The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970
A linear complexity phasing method for thousands of genomes
Delaneau, O., Marchini, J., & Zagury, J.-F. (2012) · Nature Methods · doi:10.1038/nmeth.1785 · Cited by 1,850
A map of rice genome variation reveals the origin of cultivated rice
Huang, X., Kurata, N., Wei, X., Wang, Z.-X., Wang, A., Zhao, Q., Zhao, Y., Liu, K., Lu, H., Li, W., et al. (2012) · Nature · doi:10.1038/nature11532 · Cited by 1,663
Linkage disequilibrium--understanding the evolutionary past and mapping the medical future.
Slatkin, M. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2361 · Cited by 1,614
GERAD1 Consortium, Pardiñas, A. F., CRESTAR Consortium, Holmans, P., Pocklington, A. J., Escott-Price, V., Ripke, S., Carrera, N., Legge, S. E., Bishop, S., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0059-2 · Cited by 1,552
Self-citationAncient human genomes suggest three ancestral populations for present-day Europeans
Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S., Kirsanow, K., Sudmant, P. H., Schraiber, J. G., Castellano, S., Lipson, M., et al. (2014) · Nature · doi:10.1038/nature13673 · Cited by 1,357
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science · doi:10.1126/science.1215040 · Cited by 1,272
Self-citationGenetic Evidence for High-Altitude Adaptation in Tibet
Simonson, T. S., Yang, Y., Huff, C. D., Yun, H., Qin, G., Witherspoon, D. J., Bai, Z., Lorenzo, F. R., Xing, J., Jorde, L. B., et al. (2010) · Science · doi:10.1126/science.1189406 · Cited by 1,227
Human metabolic phenotype diversity and its association with diet and blood pressure
Holmes, E., Loo, R. L., Stamler, J., Bictash, M., Yap, I. K. S., Chan, Q., Ebbels, T., De Iorio, M., Brown, I. J., Veselkov, K. A., et al. (2008) · Nature · doi:10.1038/nature06882 · Cited by 1,054
The genetics of human adaptation: hard sweeps, soft sweeps, and polygenic adaptation
Pritchard, J. K., Pickrell, J. K., & Coop, G. (2010) · Current Biology · doi:10.1016/j.cub.2009.11.055 · Cited by 932
A HapMap harvest of insights into the genetics of common disease
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889
Population differentiation as a test for selective sweepsPreprint
Chen, H., Patterson, N. J., & Reich, D. (2010) · Genome Research · doi:10.1101/gr.100545.109 · Cited by 916
Finding the genomic basis of local adaptation: pitfalls, practical solutions, and future directions
Hoban, S., Kelley, J. L., Lotterhos, K. E., Antolin, M. F., Bradburd, G., Lowry, D. B., Poss, M. L., Reed, L. K., Storfer, A., & Whitlock, M. C. (2016) · The American Naturalist · doi:10.1086/688018 · Cited by 876
“A reference genome also allows for haplotype structure assessment and, in turn, analyses of signatures of selective sweeps (Maynard Smith and Haigh 1974; Gibson et al. 2006; Sabeti et al. 2007; see table 1).”
How culture shaped the human genome: bringing genetics and the human sciences together
Laland, K. N., Odling‐Smee, J., & Myles, S. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2734 · Cited by 891
Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds
The Bovine HapMap Consortium, Gibbs, R. A., Taylor, J. F., Van Tassell, C. P., Barendse, W., Eversole, K. A., Gill, C. A., Green, R. D., Hamernik, D. L., Kappes, S. M., et al. (2009) · Science · doi:10.1126/science.1167936 · Cited by 868
Ancient human genome sequence of an extinct Palaeo-Eskimo
Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J. S., Albrechtsen, A., Moltke, I., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., et al. (2010) · Nature · doi:10.1038/nature08835 · Cited by 849
Campbell, M. C., & Tishkoff, S. A. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164258 · Cited by 879
Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication
vonHoldt, B. M., Pollinger, J. P., Lohmueller, K. E., Han, E., Parker, H. G., Quignon, P., Degenhardt, J. D., Boyko, A. R., Earl, D. A., Auton, A., et al. (2010) · Nature · doi:10.1038/nature08837 · Cited by 825
selscan: An Efficient Multithreaded Program to Perform EHH-Based Scans for Positive Selection
Szpiech, Z. A., & Hernandez, R. D. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/msu211 · Cited by 805
Human ATP-binding cassette (ABC) transporter family
Vasiliou, V., Vasiliou, K., & Nebert, D. W. (2008) · Human Genomics · doi:10.1186/1479-7364-3-3-281 · Cited by 779
Durum wheat genome highlights past domestication signatures and future improvement targets
Maccaferri, M., Harris, N. S., Twardziok, S. O., Pasam, R., Gundlach, H., Spannagl, M., Ormanbekova, D., Lux, T. M., Prade, V. M., Milner, S. G., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0381-3 · Cited by 770
Unlocking the secrets of the genome
Celniker, S., Dillon, L. A. L., Gerstein, M., Gunsalus, K. C., Henikoff, S., Karpen, G. H., Kellis, M., Lai, E. C., Lieb, J. D., MacAlpine, D. M., et al. (2009) · Nature · doi:10.1038/459927a · Cited by 781
Signals of recent positive selection in a worldwide sample of human populations
Pickrell, J. K., Coop, G., Novembre, J., Kudaravalli, S., Li, J. Z., Absher, D., Srinivasan, B. S., Barsh, G. S., Myers, R. M., Feldman, M. W., et al. (2009) · Genome Research · doi:10.1101/gr.087577.108 · Cited by 717
Using Environmental Correlations to Identify Loci Underlying Local Adaptation
Coop, G., Witonsky, D., Rienzo, A. D., & Pritchard, J. K. (2010) · Genetics · doi:10.1534/genetics.110.114819 · Cited by 720
Detecting Natural Selection in Genomic Data
Vitti, J. J., Grossman, S. R., & Sabeti, P. C. (2013) · Annual Review of Genetics · doi:10.1146/annurev-genet-111212-133526 · Cited by 694
Self-citationGenome flux and stasis in a five millennium transect of European prehistory
Gamba, C., Jones, E. R., Teasdale, M. D., McLaughlin, R. L., Gonzalez-Fortes, G., Mattiangeli, V., Domboróczki, L., Kővári, I., Pap, I., Anders, A., et al. (2014) · Nature Communications · doi:10.1038/ncomms6257 · Cited by 667
Basigin is a receptor essential for erythrocyte invasion by Plasmodium falciparum
Crosnier, C., Bustamante, L. Y., Scott, J. B., Bei, A. K., Theron, M., Uchikawa, M., Mboup, S., Ndir, O., Kwiatkowski, D. P., Duraisingh, M. T., et al. (2011) · Nature · doi:10.1038/nature10606 · Cited by 665
Comparative genetic architectures of schizophrenia in East Asian and European populations
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Lam, M., Indonesia Schizophrenia Consortium, Genetic REsearch on schizophreniA neTwork-China and the Netherlands (GREAT-CN), Chen, C.-Y., Li, Z., Martin, A. R., Bryois, J., Ma, X., Gaspar, H., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0512-x · Cited by 655
Self-citationHaplotype phasing: existing methods and new developments
Browning, S. R., & Browning, B. L. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3054 · Cited by 681
Consanguinity, human evolution, and complex diseases
Bittles, A. H., & Black, M. L. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906079106 · Cited by 646
Natural selection has driven population differentiation in modern humans
Barreiro, L. B., Laval, G., Quach, H., Patin, E., & Quintana-Murci, L. (2008) · Nature Genetics · doi:10.1038/ng.78 · Cited by 605
Fumagalli, M., Sironi, M., Pozzoli, U., Ferrer-Admettla, A., Pattini, L., & Nielsen, R. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002355 · Cited by 600
Genomic Patterns of Homozygosity in Worldwide Human Populations
Pemberton, T. J., Absher, D., Feldman, M. W., Myers, R., Rosenberg, N. A., & Li, J. Z. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.014 · Cited by 618
Robust Identification of Local Adaptation from Allele Frequencies
Günther, T., & Coop, G. (2013) · Genetics · doi:10.1534/genetics.113.152462 · Cited by 615
Progress and promise of genome-wide association studies for human complex trait genetics
Stranger, B. E., Stahl, E. A., & Raj, T. (2011) · Genetics · doi:10.1534/genetics.110.120907 · Cited by 567
Kato, N., Takeuchi, F., Tabara, Y., Kelly, T. N., Go, M. J., Sim, X., Tay, W. T., Chen, C.-H., Zhang, Y., Yamamoto, K., et al. (2011) · Nature Genetics · doi:10.1038/ng.834 · Cited by 571
From evolutionary genetics to human immunology: how selection shapes host defence genes
Barreiro, L. B., & Quintana‐Murci, L. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2698 · Cited by 582
Genomic analyses identify distinct patterns of selection in domesticated pigs and Tibetan wild boars
Li, M., Tian, S., Jin, L. G., Zhou, G., Li, Y., Zhang, Y., Wang, T., Yeung, C. K. L., Chen, L., Ma, J., et al. (2013) · Nature Genetics · doi:10.1038/ng.2811 · Cited by 560
Natural selection and infectious disease in human populations
Karlsson, E. K., Kwiatkowski, D. P., & Sabeti, P. C. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3734 · Cited by 546
Self-citationEvidence for archaic adaptive introgression in humans
Racimo, F., Sankararaman, S., Nielsen, R., & Huerta-Sánchez, E. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3936 · Cited by 521
Genetic Ancestry and Natural Selection Drive Population Differences in Immune Responses to Pathogens
Nédélec, Y., Sanz, J., Baharian, G., Szpiech, Z. A., Pacis, A., Dumaine, A., Grenier, J.-C., Freiman, A., Sams, A. J., Hebert, S., et al. (2016) · Cell · doi:10.1016/j.cell.2016.09.025 · Cited by 512
A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection
Grossman, S. R., Shylakhter, I., Karlsson, E. K., Byrne, E. H., Morales, S., Frieden, G., Hostetter, E., Angelino, E., Garber, M., Zuk, O., et al. (2010) · Science · doi:10.1126/science.1183863 · Cited by 512
Self-citationHunter-gatherer genomic diversity suggests a southern African origin for modern humans
Henn, B. M., Gignoux, C. R., Jobin, M., Granka, J. M., Macpherson, J. M., Kidd, J. M., Rodríguez-Botigué, L., Ramachandran, S., Hon, L., Brisbin, A., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1017511108 · Cited by 502
The Pathogenesis of Endometriosis: Molecular and Cell Biology Insights
Laganà, A. S., Garzon, S., Götte, M., Viganò, P., Franchi, M. P., Ghezzi, F., & Martin, D. C. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20225615 · Cited by 503
Comparative studies of gene expression and the evolution of gene regulation
Romero, I. G., Ruvinsky, I., & Gilad, Y. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3229 · Cited by 488
A population genetic signal of polygenic adaptation
Berg, J. J., & Coop, G. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004412 · Cited by 487
Cultural evolutionary theory: How culture evolves and why it matters
Creanza, N., Kolodny, O., & Feldman, M. W. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1620732114 · Cited by 482
Application of SNPs for population genetics of nonmodel organisms: new opportunities and challenges
Helyar, S., Hemmer‐Hansen, J., Bekkevold, D., Taylor, M., Ogden, R., Limborg, M. T., Cariani, A., Maes, G. E., Diopere, E., CARVALHO, G. R., et al. (2011) · Molecular Ecology Resources · doi:10.1111/j.1755-0998.2010.02943.x · Cited by 500
Population genomics of rapid adaptation by soft selective sweeps
Messer, P. W., & Petrov, D. A. (2013) · Trends in Ecology & Evolution · doi:10.1016/j.tree.2013.08.003 · Cited by 512
Making sense of genomic islands of differentiation in light of speciation
Wolf, J. B. W., & Ellegren, H. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.133 · Cited by 457
Classic Selective Sweeps Were Rare in Recent Human Evolution
Hernandez, R. D., Kelley, J. L., Elyashiv, E., Melton, S., Auton, A., McVean, G., 1000 Genomes Project, Sella, G., & Przeworski, M. (2011) · Science · doi:10.1126/science.1198878 · Cited by 441
Constructing genomic maps of positive selection in humans: Where do we go from here?Preprint
Akey, J. M. (2009) · Genome Research · doi:10.1101/gr.086652.108 · Cited by 433
The role of geography in human adaptation
Coop, G., Pickrell, J. K., Novembre, J., Kudaravalli, S., Li, J., Absher, D., Myers, R. M., Cavalli-Sforza, L. L., Feldman, M. W., & Pritchard, J. K. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000500 · Cited by 412
Sullivan, P. F., de Geus, E. J. C., Willemsen, G. A. H. M., James, M. R., Smit, J. H., Zandbelt, T., Arolt, V., Baune, B., Blackwood, D., Cichon, S., et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.125 · Cited by 405
Gautier, M., Klassmann, A., & Vitalis, R. (2016) · Molecular Ecology Resources · doi:10.1111/1755-0998.12634 · Cited by 415
Eyre‐Walker, A., & Keightley, P. D. (2009) · Molecular Biology and Evolution · doi:10.1093/molbev/msp119 · Cited by 400
Vaysse, A., Ratnakumar, A., Derrien, T., Axelsson, E., Pielberg, G., Sigurðsson, S., Fall, T., Seppälä, E. H., Hansen, M. S., Lawley, C., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002316 · Cited by 405
Genetic diversity of the African malaria vector Anopheles gambiae
Miles, A., Clarkson, C. S., Kozak, K., Pearson, R. D., Donnelly, M. J., Lawniczak, M., Kwiatkowski, D. P., Stalker, J., Drury, E., Mead, D. G., et al. (2017) · Nature · doi:10.1038/nature24995 · Cited by 385
Molecular genetics of human pigmentation diversity
Sturm, R. A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp003 · Cited by 379
A Major Genome Region Underlying Artemisinin Resistance in Malaria
Cheeseman, I. H., Miller, B. A., Nair, S., Nkhoma, S. C., Tan, A., Tan, J. C., Saai, S. A., Phyo, A. P., Moo, C. L., Lwin, K. M., et al. (2012) · Science · doi:10.1126/science.1215966 · Cited by 379
Going global by adapting local: A review of recent human adaptation
Fan, S., Hansen, M. E. B., Lo, Y., & Tishkoff, S. A. (2016) · Science · doi:10.1126/science.aaf5098 · Cited by 387
Massive genomic variation and strong selection in Arabidopsis thaliana lines from Sweden
Long, Q., Rabanal, F. A., Meng, D., Huber, C. D., Farlow, A., Platzer, A., Zhang, Q., Vilhjálmsson, B. J., Korte, A., Nizhynska, V., et al. (2013) · Nature Genetics · doi:10.1038/ng.2678 · Cited by 384
Genome-Wide Inference of Ancestral Recombination Graphs
Rasmussen, M. D., Hubisz, M. J., Gronau, I., & Siepel, A. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004342 · Cited by 371
Casanova, J., Abel, L., & Quintana‐Murci, L. (2011) · Annual Review of Immunology · doi:10.1146/annurev-immunol-030409-101335 · Cited by 377
Identifying Recent Adaptations in Large-Scale Genomic Data
Grossman, S. R., Andersen, K. G., Shlyakhter, I., Tabrizi, S., Winnicki, S., Yen, A., Park, D. J., Griesemer, D., Karlsson, E. K., Wong, S. H., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.035 · Cited by 368
Self-citationHowrigan, D. P., Simonson, M. A., & Keller, M. C. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-460 · Cited by 379
Zhang, X., Chen, S., Shi, L., Gong, D., Zhang, S., Zhao, Q., Zhan, D., Vasseur, L., Wang, Y., Yu, J., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00895-y · Cited by 367
Plassais, J., Kim, J., Davis, B. W., Karyadi, D. M., Hogan, A. N., Harris, A. C., Decker, B. J., Parker, H. G., & Ostrander, E. A. (2019) · Nature Communications · doi:10.1038/s41467-019-09373-w · Cited by 372
YTHDF1 links hypoxia adaptation and non-small cell lung cancer progression
Shi, Y., Fan, S., Wu, M., Zuo, Z., Li, X., Jiang, L., Shen, Q., Xu, P., Zeng, L., Zhou, Y., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12801-6 · Cited by 366
On Detecting Incomplete Soft or Hard Selective Sweeps Using Haplotype Structure
Ferrer-Admetlla, A., Liang, M., Korneliussen, T. S., & Nielsen, R. (2014) · Molecular Biology and Evolution · doi:10.1093/molbev/msu077 · Cited by 386
Dynamic landscape and evolution of m6A methylation in human
Zhang, H., Shi, X., Huang, T., Zhao, X., Chen, W., Gu, N., & Zhang, R. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa347 · Cited by 360
Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia
Galinsky, K. J., Bhatia, G., Loh, P., Georgiev, S., Mukherjee, S., Patterson, N. J., & Price, A. L. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.12.022 · Cited by 374
High-depth African genomes inform human migration and health
Choudhury, A., Aron, S., Botigué, L. R., Sengupta, D., Botha, G., Bensellak, T., Wells, G., Kumuthini, J., Shriner, D., Fakim, Y. J., et al. (2020) · Nature · doi:10.1038/s41586-020-2859-7 · Cited by 373
Zhao, S., Zheng, P., Dong, S., Zhan, X., Wu, Q., Guo, X., Hu, Y., He, W., Zhang, S., Fan, W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2494 · Cited by 353
Yamaguchi‐Kabata, Y., Nakazono, K., Takahashi, A., Saito, S., Hosono, N., Kubo, M., Nakamura, Y., & Kamatani, N. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.08.019 · Cited by 349
The second decade of 3C technologies: detailed insights into nuclear organizationPreprint
Denker, A., & de Laat, W. L. (2016) · Genes & Development · doi:10.1101/gad.281964.116 · Cited by 357
Fariello, M. I., Boitard, S., Naya, H., SanCristobal, M., & Servin, B. (2013) · Genetics · doi:10.1534/genetics.112.147231 · Cited by 360
Yang, J. H., Li, W., Lv, F., He, S., Tian, S., Peng, W., Sun, Y., Zhao, Y., Tu, X.-L., Zhang, M., et al. (2016) · Molecular Biology and Evolution · doi:10.1093/molbev/msw129 · Cited by 350
Self-citationGenome-wide scans for footprints of natural selection
Oleksyk, T. K., Smith, M. W., & O'Brien, S. J. (2010) · Philosophical Transactions of the Royal Society B: Biological Sciences · doi:10.1098/rstb.2009.0219 · Cited by 340
A Genome-Wide Search for Signals of High-Altitude Adaptation in Tibetans
Xu, S., Li, S., Yang, Y., Tan, J., Lou, H., Jin, W., Yang, L., Pan, X., Wang, J., Shen, Y., et al. (2011) · Molecular Biology and Evolution · doi:10.1093/molbev/msq277 · Cited by 331
Evidence of widespread selection on standing variation in Europe at height-associated SNPs
Turchin, M. C., Chiang, C. W., Palmer, C. D., Sankararaman, S., Reich, D., Genetic Investigation of ANthropometric Traits (GIANT) Consortium, & Hirschhorn, J. N. (2012) · Nature Genetics · doi:10.1038/ng.2368 · Cited by 329
Convergence in pigmentation at multiple levels: mutations, genes and function
Manceau, M., DOMINGUES, V. S., Linnen, C. R., Rosenblum, E. B., & Hoekstra, H. E. (2010) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2010.0104 · Cited by 327
Flanigan, K. M., Dunn, D. M., von Niederhausern, A. C., Soltanzadeh, P., Gappmaier, E., Howard, M. T., Sampson, J. B., Mendell, J. R., Wall, C., King, W. M., et al. (2009) · Human Mutation · doi:10.1002/humu.21114 · Cited by 316
A Dynamic 6,000-Year Genetic History of Eurasia’s Eastern Steppe
Jeong, C., Wang, K., Wilkin, S., Taylor, W. T. T., Miller, B. K., Bemmann, J., Stahl, R., Chiovelli, C., Knolle, F., Ulziibayar, S., et al. (2020) · Cell · doi:10.1016/j.cell.2020.10.015 · Cited by 326
Garrison, E. P., Kronenberg, Z. N., Dawson, E. T., Pedersen, B. S., & Prins, P. (2022) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1009123 · Cited by 304
Refined Geographic Distribution of the Oriental ALDH2*504Lys (nee 487Lys) Variant
Li, H., Borinskaya, S. A., Yoshimura, K., Kal’ina, N. R., Marusin, A. V., Степанов, В. А., Qin, Z., Khaliq, S., Lee, M., Yang, Y., et al. (2009) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2009.00517.x · Cited by 293
Early Neolithic genomes from the eastern Fertile Crescent
Broushaki, F., Thomas, M. G., Link, V., López, S., van Dorp, L., Kirsanow, K., Hofmanová, Z., Diekmann, Y., Cassidy, L. M., Díez-del-Molino, D., et al. (2016) · Science · doi:10.1126/science.aaf7943 · Cited by 288
Korneliussen, T. S., Moltke, I., Albrechtsen, A., & Nielsen, R. (2013) · BMC Bioinformatics · doi:10.1186/1471-2105-14-289 · Cited by 269
Moradi, M. H., Nejati‐Javaremi, A., Moradi-Shahrbabak, M., Dodds, K. G., & McEwan, J. C. (2012) · BMC Genetics · doi:10.1186/1471-2156-13-10 · Cited by 282
Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
Jae, L. T., Raaben, M., Riemersma, M., van Beusekom, E., Blomen, V. A., Velds, A., Kerkhoven, R. M., Carette, J. E., Topaloglu, H., Meinecke, P., et al. (2013) · Science · doi:10.1126/science.1233675 · Cited by 272
The Genome Landscape of Indigenous African Cattle
Kim, J., Hanotte, O., Mwai, O. A., Dessie, T., Bashir, S., Diallo, B., Agaba, M., Kim, K., Kwak, W., Sung, S., et al. (2017) · Genome biology · doi:10.1186/s13059-017-1153-y · Cited by 271
Dispersals and genetic adaptation of Bantu-speaking populations in Africa and North America
Patin, É., Lopez, M., Grollemund, R., Verdu, P., Harmant, C., Quach, H., Laval, G., Perry, G. H., Barreiro, L. B., Froment, A., et al. (2017) · Science · doi:10.1126/science.aal1988 · Cited by 284
Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant
Kamberov, Y. G., Wang, S., Tan, J., Gerbault, P., Wark, A. R., Tan, L., Yang, Y., Li, S., Tang, K., Chen, H., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.016 · Cited by 277
Self-citationAdaptations to Climate in Candidate Genes for Common Metabolic Disorders
Hancock, A. M., Witonsky, D., GORDON, A. S., Eshel, G., Pritchard, J. K., Coop, G., & Rienzo, A. D. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.0040032 · Cited by 277
Takala‐Harrison, S., Clark, T. G., Jacob, C. G., Cummings, M. P., Miotto, O., Dondorp, A. M., Fukuda, M. M., Nosten, F. H., Noedl, H., Imwong, M., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1211205110 · Cited by 279
Population genetic inference from genomic sequence variationPreprint
Pool, J. E., Hellmann, I., Jensen, J. D., & Nielsen, R. (2010) · Genome Research · doi:10.1101/gr.079509.108 · Cited by 273
Ameur, A., Enroth, S., Johansson, Å., Zaboli, G., Igl, W., Johansson, A., Rivas, M. A., Daly, M. J., Schmitz, G., Hicks, A. A., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.03.014 · Cited by 265
Evolutionary Adaptations to Dietary Changes
Luca, F., Perry, G. H., & Rienzo, A. D. (2010) · Annual Review of Nutrition · doi:10.1146/annurev-nutr-080508-141048 · Cited by 276
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
