Signals of recent positive selection in a worldwide sample of human populations
Open accessAbstract
Genome-wide scans for recent positive selection in humans have yielded insight into the mechanisms underlying the extensive phenotypic diversity in our species, but have focused on a limited number of populations. Here, we present an analysis of recent selection in a global sample of 53 populations, using genotype data from the Human Genome Diversity-CEPH Panel. We refine the geographic distributions of known selective sweeps, and find extensive overlap between these distributions for populations in the same continental region but limited overlap between populations outside these groupings. We present several examples of previously unrecognized candidate targets of selection, including signals at a number of genes in the NRG–ERBB4 developmental pathway in non-African populations. Analysis of recently identified genes involved in complex diseases suggests that there has been selection on loci involved in susceptibility to type II diabetes. Finally, we search for local adaptation between geographically close populations, and highlight several examples.
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Skin pigmentation has a complex evolutionary history, with selection acting on different genes at different times and geographic locations.
“In addition, the picture emerging from the genetic data suggests that skin pigmentation has a complex evolutionary history, with selection acting on different genes at different times and geographic locations (McEvoy et al. 2006;Lao et al. 2007;Myles et al. 2007;Norton et al. 2007;Pickrell et al. 2009).”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Pickrell et al. 2009
The Pigmentation section reports selection signals at several pigmentation genes that vary by region, and says light pigmentation in East Asia appears to have evolved largely through genes separate from those identified in European or African-American samples. It describes recent selection but does not establish that selection acted on different genes at different times. (LLM, conf=0.82)
Experimental — accuracy not yet measuredKITLG derived alleles associated with lighter pigmentation reach high frequencies both in European and East Asian populations and likely began to be selected in a proto Eurasian population.
“Some genes, such as KITLG, have derived alleles (associated with lighter pigmentation) that reach high frequencies both in European and East Asian populations and likely began to be selected in a proto Eurasian population (Lao et al. 2007;Williamson et al. 2007;Pickrell et al. 2009).”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Pickrell et al. 2009
The Pigmentation section (page unavailable) reports strong evidence of selection at KITLG in all non-African populations, and Novel selection candidates (page unavailable) links a nearby presumed selection target to skin pigmentation. Our copy does not establish that the lighter-pigmentation alleles are derived and at high frequency in both Europeans and East Asians, or that selection began in a proto-Eurasian population. (LLM, conf=0.84)
Experimental — accuracy not yet measuredRecent theoretical work has shown that independent evolution may be an important determinant of geographic patterns of adaptation and could explain the observed scarcity of continental-wide sweeps in human populations, even when selective pressures are homogeneous.
“Recent theoretical work (Ralph and Coop 2010) has shown that independent evolution may be an important determinant of geographic patterns of adaptation and could explain the observed scarcity of continental-wide sweeps in human populations (Coop et al. 2009;Pickrell et al. 2009), even when selective pressures are homogeneous.”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Pickrell et al. 2009
The Assessment of power section reports limited sharing of selection signals between some geographic regions, supporting the observation that many signals are geographically restricted. It also reports extensive sharing within geographic regions, so it does not clearly establish a scarcity of sweeps spanning an entire continent. The theoretical explanation is attributed to Ralph and Coop (2010), not to this paper. (LLM, conf=0.76)
Experimental — accuracy not yet measuredThe frequency of the Asn (risk) allele varies considerably among populations (0%-60%).
“The frequency of the Asn (risk) allele varies considerably among populations (0%-60%) (10,14).”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [14]
The Disease susceptibility and other quantitative phenotypes section (page unavailable) identifies a risk allele at SH2B3 and reports that its region differs between Europe and East Asia. It does not identify that allele as Asn or give a population-frequency range of 0%–60%, so those specific parts of the claim are unsupported by our copy. (LLM, conf=0.72)
Experimental — accuracy not yet measuredDifferent genes are responsible for the reduction of melanin content in Europeans and East Asians.
“suggesting that different genes are responsible for the reduction of melanin content in Europeans and East Asians (McEvoy et al. 2006;Lao et al. 2007;Myles et al. 2007;Norton et al. 2007;Pickrell et al. 2009).”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Pickrell et al. 2009
Nonzero estimates for selection coefficients at KITLG contrast with nonsignificant values from neutrality tests but are consistent with scans for selection based on SNPs.
“The nonzero estimates for selection coefficients at KITLG (table 3) contrast with the nonsignificant values obtained with our neutrality tests (table 2) but are consistent with scans for selection based on SNPs (McEvoy et al. 2006;Lao et al. 2007;Miller et al. 2007;Williamson et al. 2007;Pickrell et al. 2009).”
From The timing of pigmentation lightening in Europeans (2013) · cites this paper as Pickrell et al. 2009
SLC30A9 encodes ZnT9, a ubiquitously expressed zinc transporter, and has been repeatedly reported as a top candidate region for positive selection in humans, mostly in East Asian populations.
“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 [18]
Our copy discusses selection signals in East Asian populations (Local adaptation; page unavailable), but the retrieved passages do not identify SLC30A9 as a candidate region. Searches for SLC30A9 and its ZnT9/zinc-transporter name found no passage linking this gene to positive selection. (LLM, conf=0.72)
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Cites
Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.
Tajima, F. (1989) · Genetics · doi:10.1093/genetics/123.3.585 · Cited by 13,991 · see citing works
KEGG for linking genomes to life and the environment
Kanehisa, M. I., Araki, M., Goto, S., Hattori, M., Hirakawa, M., Itoh, M., Katayama, T., Kawashima, S., Okuda, S., Tokimatsu, T., et al. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm882 · Cited by 6,828 · see citing works
The ENCODE Project Consortium (2007) · Nature · doi:10.1038/nature05874 · Cited by 5,223 · see citing works
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 · see citing works
The hitch-hiking effect of a favourable gene
Smith, J. M., & Haigh, J. (1974) · Genetical Research · doi:10.1017/s0016672300014634 · Cited by 3,415 · see citing works
Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?
Neel, J. V. (1962) · Europe PMC (PubMed Central) · Cited by 3,147 · see citing works
Genetic Structure of Human Populations
Rosenberg, N. A., Pritchard, J. K., Weber, J. L., Cann, H. M., Kídd, K. K., Анатольевич, Ж. Л., & Feldman, M. W. (2002) · Science · doi:10.1126/science.1078311 · Cited by 3,000 · see citing works
Self-citationA 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 2,912 · see citing works
Self-citationGenome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891 · see citing works
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Scott, L. J., Mohlke, K. L., Bonnycastle, L. L., Willer, C. J., Li, Y., Duren, W. L., Erdos, M. R., Stringham, H. M., Chines, P. S., Jackson, A. U., et al. (2007) · Science · doi:10.1126/science.1142382 · Cited by 2,753 · see citing works
The hitch-hiking effect of a favourable gene
MAYNARD, J., & Haigh, J. (2007) · Genetics Research · doi:10.1017/s0016672308009579 · Cited by 2,663 · see citing works
Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?
(1962) · PubMed Central · Cited by 2,182 · see citing works
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 · see citing works
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 · see citing works
Ozinsky, A., Underhill, D. M., Fontenot, J. D., Hajjar, A. M., Smith, K. D., Wilson, C. B., Schroeder, L. A., & Aderem, A. A. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.250476497 · Cited by 2,086 · see citing works
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 1,947 · see citing works
Self-citationWellcome Trust Case Control Consortium, Zeggini, E., Scott, L. J., Saxena, R., Voight, B. F., Marchini, J. L., Hu, T., de Bakker, P. I., Abecasis, G. R., Almgren, P., et al. (2008) · Nature Genetics · doi:10.1038/ng.120 · Cited by 1,864 · see citing works
Neuregulin 1 and Susceptibility to Schizophrenia
Stefánsson, H., Pétursson, H., Sigurðsson, E., Steinthórsdóttir, V., Bjornsdottir, S., Sigmundsson, T., Ghosh, S., Brynjolfsson, J., Gunnarsdottir, S., Ivarsson, O., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/342734 · Cited by 1,671 · see citing works
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Willer, C. J., Sanna, S., Jackson, A. U., Scuteri, A., Bonnycastle, L. L., Clarke, R., Heath, S. C., Timpson, N. J., Najjar, S. S., Stringham, H. M., et al. (2008) · Nature Genetics · doi:10.1038/ng.76 · Cited by 1,585 · see citing works
Carlson, C. S., Eberle, M. A., Rieder, M. J., Qian, Y., Kruglyak, L., & Nickerson, D. A. (2004) · The American Journal of Human Genetics · doi:10.1086/381000 · Cited by 1,578 · see citing works
Diet and the evolution of human amylase gene copy number variation
Perry, G. H., Dominy, N. J., Claw, K. G., Lee, A. S., Fiegler, H., Redon, R., Werner, J., Villanea, F. A., Mountain, J. L., Misra, R., et al. (2007) · Nature Genetics · doi:10.1038/ng2123 · Cited by 1,467 · see citing works
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
Finland, G. O. T. 1. D. I., Todd, J. A., the Wellcome Trust Case Control Consortium, Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., et al. (2007) · Nature Genetics · doi:10.1038/ng2068 · Cited by 1,456 · see citing works
Whole-Genome Patterns of Common DNA Variation in Three Human Populations
Hinds, D., Stuve, L., Nilsen, G. B., Halperin, E., Eskin, E., Ballinger, D., Frazer, K., & Cox, D. (2005) · Science · doi:10.1126/science.1105436 · Cited by 1,245 · see citing works
DISTRIBUTION OF GENE FREQUENCY AS A TEST OF THE THEORY OF THE SELECTIVE NEUTRALITY OF POLYMORPHISMS
Lewontin, R. C., & Krakauer, J. (1973) · Genetics · doi:10.1093/genetics/74.1.175 · Cited by 1,181 · see citing works
Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor
Gassmann, M., Casagranda, F., Orioli, D., Simon, H. H., Lai, C., Klein, R., & Lemke, G. (1995) · Nature · doi:10.1038/378390a0 · Cited by 1,151 · see citing works
The Generic Genome Browser: A Building Block for a Model Organism System DatabasePreprint
Stein, L. D., Mungall, C., Shu, S., Caudy, M. A., Mangone, M., Day, A., Nickerson, E., Stajich, J., Harris, T. W., Arva, A., et al. (2002) · Genome Research · doi:10.1101/gr.403602 · Cited by 1,145 · see citing works
A Fine-Scale Map of Recombination Rates and Hotspots Across the Human Genome
Myers, S., Bottolo, L., Freeman, C., McVean, G., & Donnelly, P. (2005) · Science · doi:10.1126/science.1117196 · Cited by 1,134 · see citing works
Genetic signatures of strong recent positive selection at the lactase gene.
Bersaglieri, T., Sabeti, P. C., Patterson, N., VanderPloeg, T., Schaffner, S., Drake, J. A., Rhodes, M., Reich, D., & Hirschhorn, J. (2004) · American Journal of Human Genetics · doi:10.1086/421051 · Cited by 1,098 · see citing works
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
Lamason, R. L., Mohideen, M.-A. P. K., Mest, J. R., Wong, A. C., Norton, H. L., Aros, M. C., Jurynec, M. J., Mao, X., Humphreville, V. R., Humbert, J. E., et al. (2005) · Science · doi:10.1126/science.1116238 · Cited by 1,043 · see citing works
Neuregulin 1 in neural development, synaptic plasticity and schizophrenia
Mei, L., & Xiong, W.-C. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2392 · Cited by 1,030 · see citing works
Genomic scans for selective sweeps using SNP dataPreprint
Nielsen, R., Williamson, S., Kim, Y., Hubisz, M. J., Clark, A. G., & Bustamante, C. D. (2005) · Genome Research · doi:10.1101/gr.4252305 · Cited by 1,024 · see citing works
Genome-wide association analysis identifies 20 loci that influence adult height
Initiative, D. G., Weedon, M. N., The Wellcome Trust Case Control Consortium, Cambridge GEM Consortium, Lango, H., Lindgren, C. M., Wallace, C., Evans, D. M., Mangino, M., Freathy, R. M., et al. (2008) · Nature Genetics · doi:10.1038/ng.121 · Cited by 826 · see citing works
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
Yasuda, K., Miyake, K., Horikawa, Y., Hara, K., Osawa, H., Furuta, H., Hirota, Y., Mori, H., Jonsson, A., Sato, Y., et al. (2008) · Nature Genetics · doi:10.1038/ng.207 · Cited by 776 · see citing works
Genetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750 · see citing works
Unoki, H., Takahashi, A., Kawaguchi, T., Hara, K., Horikoshi, M., Andersen, G., Ng, D. P. K., Holmkvist, J., Borch-Johnsen, K., Jørgensen, T., et al. (2008) · Nature Genetics · doi:10.1038/ng.208 · Cited by 725 · see citing works
Newly identified genetic risk variants for celiac disease related to the immune response
Hunt, K. A., Zhernakova, A., Turner, G., Heap, G., Franke, L., Bruinenberg, M., Romanos, J., Dinesen, L. C., Ryan, A. W., Panesar, D., et al. (2008) · Nature Genetics · doi:10.1038/ng.102 · Cited by 675 · see citing works
Many sequence variants affecting diversity of adult human height
Gudbjartsson, D. F., Walters, G. B., Þorleifsson, G., Stefánsson, H., Halldórsson, B. V., Zusmanovich, P., Sulem, P., Thorlacius, S., Gylfason, A., Steinberg, S., et al. (2008) · Nature Genetics · doi:10.1038/ng.122 · Cited by 666 · see citing works
Calibrating a coalescent simulation of human genome sequence variation
Schaffner, S. F., Foo, C., Gabriel, S., Reich, D., Daly, M. J., & Altshuler, D. (2005) · Genome Research · doi:10.1101/gr.3709305 · Cited by 616 · see citing works
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 · see citing works
Lau, M. M., Stewart, C. E., Liu, Z., Bhatt, H., Rotwein, P. S., & Stewart, C. L. (1994) · Genes & Development · doi:10.1101/gad.8.24.2953 · Cited by 602 · see citing works
Identification of ten loci associated with height highlights new biological pathways in human growth
Initiative, T. D. G., Lettre, G., FUSION, KORA, The Prostate, L. C. A. O. C. S. T., Study, T. N. H., SardiNIA, Jackson, A., Gieger, C., Schumacher, F. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.125 · Cited by 583 · see citing works
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
Conrad, D., Jakobsson, M., Coop, G., Wen, X., Wall, J., Rosenberg, N., & Pritchard, J. (2006) · Nature Genetics · doi:10.1038/ng1911 · Cited by 555 · see citing works
Self-citationRefining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution
Helgason, A., Pálsson, S., Þorleifsson, G., Grant, S. F. A., Emilsson, V., Gunnarsdottir, S., Adeyemo, A., Chen, Y., Chen, G., Reynisdóttir, I., et al. (2007) · Nature Genetics · doi:10.1038/ng1960 · Cited by 520 · see citing works
Localizing Recent Adaptive Evolution in the Human Genome.
Williamson, S. H., Hubisz, M. J., Clark, A. G., Payseur, B. A., Bustamante, C. D., & Nielsen, R. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030090 · Cited by 507 · see citing works
Pathogen-Driven Selection and Worldwide HLA Class I Diversity
Prugnolle, F., Manica, A., Charpentier, M. J. E., Guégan, J., Guernier, V., & Balloux, F. (2005) · Current Biology · doi:10.1016/j.cub.2005.04.050 · Cited by 507 · see citing works
Ascertainment bias in studies of human genome-wide polymorphismPreprint
Clark, A. G., Hubisz, M. J., Bustamante, C. D., Williamson, S., & Nielsen, R. (2005) · Genome Research · doi:10.1101/gr.4107905 · Cited by 503 · see citing works
Recent and ongoing selection in the human genome
Nielsen, R., Hellmann, I., Hubisz, M. J., Bustamante, C. D., & Clark, A. G. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2187 · Cited by 501 · see citing works
Han, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S. E., Hu, F. B., Duffy, D. L., Zhao, Z. Z., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000074 · Cited by 499 · see citing works
A new approach for using genome scans to detect recent positive selection in the human genome
Tang, K., Thornton, K. R., & Stoneking, M. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050171 · Cited by 489 · see citing works
Morjan, C. L., & Rieseberg, L. H. (2004) · Molecular Ecology · doi:10.1111/j.1365-294x.2004.02164.x · Cited by 479 · see citing works
Recent acceleration of human adaptive evolution
Hawks, J., Wang, E. T., Cochran, G. M., Harpending, H. C., & Moyzis, R. K. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707650104 · Cited by 471 · see citing works
Cerasi, E., Dieterlé, P., Ege, H., Englhardt, A., Frerichs, H., Gepts, W., Hasselblatt, A., Henrichs, H. R., Herberg, L., Hoet, J., et al. (1975) · Springer eBooks · doi:10.1007/978-3-642-66033-7 · Cited by 456 · see citing works
Linkage Disequilibrium as a Signature of Selective Sweeps
Kim, Y., & Nielsen, R. (2004) · Genetics · doi:10.1534/genetics.103.025387 · Cited by 449 · see citing works
Demonstrating stratification in a European American population
Campbell, C. D., Ogburn, E. L., Lunetta, K. L., Lyon, H. N., Freedman, M. L., Groop, L. C., Altshuler, D., Ardlie, K. G., & Hirschhorn, J. N. (2005) · Nature Genetics · doi:10.1038/ng1607 · Cited by 444 · see citing works
Kobayashi, K., Sinasac, D. S., Iijima, M., Boright, A. P., Begum, L., Lee, J. R., Yasuda, T., Ikeda, S., Hirano, R., Terazono, H., et al. (1999) · Nature Genetics · doi:10.1038/9667 · Cited by 418 · see citing works
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians
Norton, H. L., Kittles, R. A., Parra, E., McKeigue, P., Mao, X., Cheng, K., Canfield, V. A., Bradley, D. G., McEvoy, B., & Shriver, M. D. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msl203 · Cited by 410 · cited 4× · see citing works
“Also among the most differentiated loci in these comparisons are SNPs in SLC45A2, mentioned above as a locus involved in pigmentation, and a cluster of SNPs in SLC25A13, the gene responsible for type II citrullinemia, a Mendelian disorder of the urea cycle (Kobayashi et al. 1999).”
BackgroundInfluentialHow reliable are empirical genomic scans for selective sweeps?Preprint
Teshima, K. M., Coop, G., & Przeworski, M. (2006) · Genome Research · doi:10.1101/gr.5105206 · Cited by 398 · see citing works
Self-citationMiller, C. T., Beleza, S., Pollen, A. A., Schluter, D., Kittles, R. A., Shriver, M. D., & Kingsley, D. M. (2007) · Cell · doi:10.1016/j.cell.2007.10.055 · Cited by 388 · see citing works
Neuregulin-3 (NRG3): A novel neural tissue-enriched protein that binds and activates ErbB4
Zhang, D., Sliwkowski, M. X., Mark, M. R., Frantz, G. D., Akita, R. W., Sun, Y., Hillan, K. J., Crowley, C. W., Brush, J., & Godowski, P. J. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.18.9562 · Cited by 383 · see citing works
Two newly identified genetic determinants of pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Jakobsdottir, M., Steinberg, S., Gudjonsson, S. A., Palsson, A., Thorleifsson, G., et al. (2008) · Nature Genetics · doi:10.1038/ng.160 · Cited by 368 · see citing works
Global landscape of recent inferred Darwinian selection for Homo sapiens
Wang, E. T., Kodama, G., Baldi, P., & Moyzis, R. K. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0509691102 · Cited by 367 · see citing works
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects
McGowan, K. A., Li, J. Z., Park, C. Y., Beaudry, V. G., Tabor, H. K., Sabnis, A. J., Zhang, W., Fuchs, H., de Angelis, M. H., Myers, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.188 · Cited by 364 · see citing works
Self-citationCONDITIONS FOR THE EXISTENCE OF CLINES
Nagylaki, T. (1975) · Genetics · doi:10.1093/genetics/80.3.595 · Cited by 341 · see citing works
A Genomewide Association Study of Skin Pigmentation in a South Asian Population
Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522235 · Cited by 315 · see citing works
Taylor, K. D., Norris, J. M., & Rotter, J. I. (2007) · Diabetes · doi:10.2337/db07-1324 · Cited by 307 · see citing works
THE POPULATION GENETICS OF ADAPTATION: THE ADAPTATION OF DNA SEQUENCES
Orr, H. A. (2002) · Evolution · doi:10.1111/j.0014-3820.2002.tb01446.x · Cited by 297 · see citing works
Evidence for positive selection in the superoxide dismutase (Sod) region of Drosophila melanogaster.
Hudson, R. R., Bailey, K., Skarecky, D. W., Kwiatowski, J., & Ayala, F. J. (1994) · Genetics · doi:10.1093/genetics/136.4.1329 · Cited by 276 · see citing works
Adaptations 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 267 · see citing works
Self-citationMatesic, L. E., Yip, R., Reuss, A. E., Swing, D. A., O’Sullivan, T. N., Fletcher, C., Copeland, N. G., & Jenkins, N. A. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.181336698 · Cited by 258 · see citing works
Neural and mammary gland defects in ErbB4 knockout mice genetically rescued from embryonic lethality
Tidcombe, H., Jackson-Fisher, A. J., Mathers, K., Stern, D. F., Gassmann, M., & Golding, J. P. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1436402100 · Cited by 255 · see citing works
A neuregulin 1 variant associated with abnormal cortical function and psychotic symptoms
Hall, J., Whalley, H. C., Job, D. E., Baig, B. J., McIntosh, A. M., Evans, K. L., Thomson, P. A., Porteous, D. J., Owens, D. G. C., Johnstone, E. C., et al. (2006) · Nature Neuroscience · doi:10.1038/nn1795 · Cited by 241 · see citing works
Fujimoto, A., Kimura, R., Ohashi, J., Omi, K., Yuliwulandari, R., Batubara, L., Mustofa, M. S., Samakkarn, U., Settheetham-Ishida, W., Ishida, T., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddm355 · Cited by 231 · see citing works
Genomic signatures of positive selection in humans and the limits of outlier approachesPreprint
Kelley, J. L., Madeoy, J. J., Calhoun, J. C., Swanson, W. J., & Akey, J. M. (2006) · Genome Research · doi:10.1101/gr.5157306 · Cited by 218 · see citing works
An evolutionary framework for common diseases: the ancestral-susceptibility model
Rienzo, A. D., & Hudson, R. R. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.08.007 · Cited by 214 · see citing works
Controlling the False-Positive Rate in Multilocus Genome Scans for Selection
Thornton, K., & Jensen, J. D. (2006) · Genetics · doi:10.1534/genetics.106.064642 · Cited by 179 · see citing works
Genetic hitch-hiking in a subdivided population
Slatkin, M., & Wiehe, T. (1998) · Genetics Research · doi:10.1017/s001667239800319x · Cited by 150 · see citing works
Worldwide population differentiation at disease-associated SNPs
Myles, S., Davison, D., Barrett, J. C., Stoneking, M., & Timpson, N. J. (2008) · BMC Medical Genomics · doi:10.1186/1755-8794-1-22 · Cited by 134 · see citing works
Sequence-Level Population Simulations Over Large Genomic Regions
Hoggart, C. J., Chadeau‐Hyam, M., Clark, T. G., Lampariello, R., Whittaker, J. C., Iorio, M. D., & Balding, D. J. (2007) · Genetics · doi:10.1534/genetics.106.069088 · Cited by 114 · see citing works
Mou, C., Thomason, H. A., Willan, P. M., Clowes, C., Harris, W. E., Drew, C. F., Dixon, J., Dixon, M. J., & Headon, D. J. (2008) · Human Mutation · doi:10.1002/humu.20795 · Cited by 106 · see citing works
A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat
Ishida, Y., David, V. A., Eizirik, E., et al. (2006) · Genomics · doi:10.1016/j.ygeno.2006.06.006 · Cited by 103 · see citing works
Power to Detect Risk Alleles Using Genome-Wide Tag SNP Panels
Eberle, M. A., Ng, P. C., Kuhn, K. M., Zhou, L., Peiffer, D. A., Galver, L., Viaud‐Martinez, K. A., Lawley, C., Gunderson, K. L., Shen, R., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030170 · Cited by 95 · see citing works
Jensen, J. D., Thornton, K., Bustamante, C. D., & Aquadro, C. F. (2007) · Genetics · doi:10.1534/genetics.106.069450 · Cited by 93 · see citing works
Insulin-Like Growth Factor-I Resistance*
Jain, S., Golde, D. W., Bailey, R. C., et al. (1998) · Endocrine Reviews · doi:10.1210/edrv.19.5.0348 · Cited by 91 · see citing works
THE POPULATION GENETICS OF ADAPTATION: THE ADAPTATION OF DNA SEQUENCES
Orr, H. A. (2002) · Evolution · doi:10.1554/0014-3820(2002)056[1317:tpgoat]2.0.co;2 · Cited by 91 · see citing works
Vaez, M., Follett, S. A., Bed’Hom, B., et al. (2008) · BMC Genetics · doi:10.1186/1471-2156-9-7 · Cited by 83 · see citing works
Variation After a Selective Sweep in a Subdivided Population
Santiago, E., & Caballero, A. (2004) · Genetics · doi:10.1534/genetics.104.032813 · Cited by 80 · see citing works
Innan, H., & Kim, Y. (2008) · Genetics · doi:10.1534/genetics.108.086835 · Cited by 77 · see citing works
Drögemüller, C., Philipp, U., Haase, B., et al. (2007) · Journal of Heredity · doi:10.1093/jhered/esm021 · Cited by 70 · see citing works
Vertebrate gene predictions and the problem of large genes
Wang, J., Li, S., Zhang, Y., Zheng, H., Xu, Z. L., Jia, Y., Yu, J. M., & Wong, G. K. (2003) · Nature Reviews Genetics · doi:10.1038/nrg1160 · Cited by 63 · see citing works
Lohmueller, K. E., Mauney, M. M., Reich, D., & Braverman, J. M. (2005) · The American Journal of Human Genetics · doi:10.1086/499287 · Cited by 54 · see citing works
Gardiner, K., Slavov, D. B., Bechtel, L. J., & Davisson, M. T. (2002) · Genomics · doi:10.1006/geno.2002.6782 · Cited by 54 · see citing works
Insulin-Like Growth Factor-I Resistance
Jain, S. (1998) · Endocrine Reviews · doi:10.1210/er.19.5.625 · Cited by 48 · see citing works
Hattori, Y., Vera, J. C., Rivas, C. I., et al. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.6.8964861 · Cited by 45 · see citing works
Estimation of inbreeding parameters in stratified populations
Cockerham, C. C., & Weir, B. S. (1986) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1986.tb01048.x · Cited by 44 · see citing works
Dey, B. R., Furlanetto, R. W., & Nissley, S. P. (1998) · Gene · doi:10.1016/s0378-1119(98)00045-6 · Cited by 39 · see citing works
Nonadaptive Explanations for Signatures of Partial Selective Sweeps in Drosophila
Macpherson, J. M., González, J., Witten, D., Davis, J. C., Rosenberg, N. A., Hirsh, A. E., & Petrov, D. A. (2008) · Molecular Biology and Evolution · doi:10.1093/molbev/msn007 · Cited by 21 · see citing works
Hattori, Y. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.81.6.2257 · Cited by 21 · see citing works
Bowcock, A. M., & Sartorelli, V. (1990) · Human Genetics · doi:10.1007/bf00206760 · Cited by 19 · see citing works
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Integrating common and rare genetic variation in diverse human populations
The International HapMap 3 Consortium (2010) · Nature · doi:10.1038/nature09298 · Cited by 3,026 · see citing works
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 · see citing works
The human transcriptome across tissues and individuals
Melé, M., Ferreira, P. G., Reverter, F., DeLuca, D. S., Monlong, J., Sammeth, M., Young, T. R., Goldmann, J. M., Pervouchine, D. D., Sullivan, T. J., et al. (2015) · Science · doi:10.1126/science.aaa0355 · Cited by 1,304 · see citing works
Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA
Huerta-Sánchez, E., Jin, X., Asan, Bianba, Z., Peter, B. M., Vinckenbosch, N., Liang, Y., Yi, X., He, M., Somel, M., et al. (2014) · Nature · doi:10.1038/nature13408 · Cited by 1,208 · see citing works
Genetic 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 · see citing works
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Lawson, D. J., Hellenthal, G., Myers, S., & Falush, D. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002453 · Cited by 1,188 · see citing works
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 · see citing works
Self-citationFumagalli, M., Sironi, M., Pozzoli, U., Ferrer-Admettla, A., Pattini, L., & Nielsen, R. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002355 · Cited by 600 · see citing works
Hunter-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 · see citing works
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Romero, I. G., Ruvinsky, I., & Gilad, Y. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3229 · Cited by 488 · see citing works
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Quach, H., Rotival, M., Pothlichet, J., Loh, Y.-H. E., Dannemann, M., Zidane, N., Laval, G., Patin, E., Harmant, C., Lopez, M., et al. (2016) · Cell · doi:10.1016/j.cell.2016.09.024 · Cited by 475 · see citing works
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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 · see citing works
Self-citationIdentifying 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 · see citing works
Nik-Zainal, S., Wedge, D. C., Alexandrov, L. B., Petljak, M., Butler, A. P., Bolli, N., Davies, H. R., Knappskog, S., Martin, S., Papaemmanuil, E., et al. (2014) · Nature Genetics · doi:10.1038/ng.2955 · Cited by 277 · see citing works
Deschamps, M., Laval, G., Fagny, M., Itan, Y., Abel, L., Casanova, J.-L., Patin, E., & Quintana-Murci, L. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.014 · Cited by 257 · see citing works
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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 · see citing works
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Thein, S. L., Menzel, S., Lathrop, M., & Garner, C. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp401 · Cited by 250 · see citing works
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Fraser, H. B. (2013) · Genome Research · doi:10.1101/gr.152710.112 · Cited by 247 · see citing works
Jakkula, E., Leppä, V., Sulonen, A.-M., Varilo, T., Kallio, S., Kemppinen, A., Purcell, S., Koivisto, K., Tienari, P., Sumelahti, M.-L., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.01.017 · Cited by 245 · see citing works
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Bolhuis, J. J., Brown, G. R., Richardson, R. C., & Laland, K. N. (2011) · PLoS Biology · doi:10.1371/journal.pbio.1001109 · Cited by 242 · see citing works
Classic Selective Sweeps Revealed by Massive Sequencing in Cattle
Qanbari, S., Pausch, H., Jansen, S., Somel, M., Strom, T. M., Fries, R., Nielsen, R., & Simianer, H. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004148 · Cited by 233 · see citing works
Pagani, L., Kivisild, T., Tarekegn, A., Ekong, R., Plaster, C., Gallego Romero, I., Ayub, Q., Mehdi, S. Q., Thomas, M. G., Luiselli, D., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.015 · Cited by 230 · see citing works
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Botigué, L. R., Henn, B. M., Gravel, S., Maples, B. K., Gignoux, C. R., Corona, E., Atzmon, G., Burns, E., Ostrer, H., Flores, C., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1306223110 · Cited by 199 · see citing works
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Ralph, P., & Coop, G. (2010) · Genetics · doi:10.1534/genetics.110.119594 · Cited by 165 · see citing works
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Ramos, P. S., Shedlock, A. M., & Langefeld, C. D. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.94 · Cited by 173 · see citing works
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Beleza, S., Santos, A. M., McEvoy, B., Alves, I., Martinho, C., Cameron, E., Shriver, M. D., Parra, E. J., & Rocha, J. (2013) · Molecular Biology and Evolution · doi:10.1093/molbev/mss207 · Cited by 156 · see citing works
Mendez, F. L., Watkins, J. C., & Hammer, M. F. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.015 · Cited by 156 · see citing works
Takeuchi, F., Isono, M., Nabika, T., Katsuya, T., Sugiyama, T., Yamaguchi, S., Kobayashi, S., Ogihara, T., Yamori, Y., Fujioka, A., et al. (2011) · Circulation Journal · doi:10.1253/circj.cj-10-0774 · Cited by 146 · see citing works
Yurchenko, A. A., Daetwyler, H. D., Yudin, N., Schnabel, R. D., Vander Jagt, C. J., Soloshenko, V., Lhasaranov, B., Popov, R., Taylor, J. F., & Larkin, D. M. (2018) · Scientific Reports · doi:10.1038/s41598-018-31304-w · Cited by 117 · see citing works
Ancestral components of admixed genomes in a Mexican cohort
Johnson, N. A., Coram, M. A., Shriver, M. D., Romieu, I., Barsh, G. S., London, S. J., & Tang, H. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002410 · Cited by 114 · see citing works
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Vatsiou, A. I., Bazin, E., & Gaggiotti, O. E. (2016) · Molecular Ecology · doi:10.1111/mec.13360 · Cited by 111 · see citing works
Candille, S. I., Absher, D. M., Beleza, S., Bauchet, M., McEvoy, B., Garrison, N. A., Li, J. Z., Myers, R. M., Barsh, G. S., Tang, H., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0048294 · Cited by 111 · see citing works
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Perry, G. H., Foll, M., Grenier, J.-C., Patin, E., Nédélec, Y., Pacis, A., Barakatt, M., Gravel, S., Zhou, X., Nsobya, S. L., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1402875111 · Cited by 105 · see citing works
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Racimo, F. (2016) · Genetics · doi:10.1534/genetics.115.178095 · Cited by 96 · see citing works
Distinct Variants at LIN28B Influence Growth in Height from Birth to Adulthood
Widén, E., Ripatti, S., Cousminer, D. L., Surakka, I., Lappalainen, T., Järvelin, M.-R., Eriksson, J. G., Raitakari, O., Salomaa, V., Sovio, U., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.03.010 · Cited by 88 · see citing works
Shumay, E., Fowler, J. S., Wang, G.-J., Logan, J., Alia-Klein, N., Goldstein, R. Z., Maloney, T., Wong, C., & Volkow, N. D. (2012) · Translational Psychiatry · doi:10.1038/tp.2012.11 · Cited by 79 · see citing works
Signatures of archaic adaptive introgression in present-day human populations
Racimo, F., Marnetto, D., & Huerta-Sánchez, E. (2016) · doi:10.1101/045237 · Cited by 200 · see citing works
Comparing signals of natural selection between three Indigenous North American populations
Reynolds, A. W., Mata-Míguez, J., Miró-Herrans, A., Briggs-Cloud, M., Sylestine, A., Barajas-Olmos, F., Garcia-Ortiz, H., Rzhetskaya, M., Orozco, L., Raff, J. A., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1819467116 · Cited by 67 · see citing works
Weissglas-Volkov, D., Calkin, A. C., Tusie-Luna, T., Sinsheimer, J. S., Zelcer, N., Riba, L., Tino, A. M. V., Ordoñez-Sánchez, M. L., Cruz-Bautista, I., Aguilar-Salinas, C. A., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci45504 · Cited by 66 · see citing works
Understanding the evolution of human pigmentation: recent contributions from population genetics
Rees, J. L., & Harding, R. M. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.358 · Cited by 50 · see citing works
Joint testing of genotype and ancestry association in admixed families
Tang, H., Siegmund, D. O., Johnson, N. A., Romieu, I., & London, S. J. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20520 · Cited by 48 · see citing works
Common variants on 6q16.2, 12q24.31 and 16p13.3 are associated with major depressive disorder
Team7, T. 2. R., Li, X., Luo, Z., Gu, C., Hall, L. S., McIntosh, A. M., Zeng, Y., Porteous, D. J., Hayward, C., Li, M., et al. (2018) · Neuropsychopharmacology · doi:10.1038/s41386-018-0078-9 · Cited by 41 · see citing works
Engelken, J., Espadas, G., Mancuso, F. M., Bonet, N., Scherr, A.-L., Jímenez-Álvarez, V., Codina-Solà, M., Medina-Stacey, D., Spataro, N., Stoneking, M., et al. (2016) · Molecular Biology and Evolution · doi:10.1093/molbev/msv267 · Cited by 31 · see citing works
Lopez-Valenzuela, M., Ramirez, O., Rosas, A., Garcia-Vargas, S., de la Rasilla, M., Lalueza-Fox, C., & Espinosa-Parrilla, Y. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/mss023 · Cited by 31 · see citing works
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 · see citing works
Non-random mate choice in humans: Insights from a genome scan
LAURENT, R., TOUPANCE, B., & CHAIX, R. (2012) · Molecular Ecology · doi:10.1111/j.1365-294x.2011.05376.x · Cited by 21 · see citing works
Eusebi, P. G., Sevane, N., Cortés, O., Contreras, E., Cañon, J., & Dunner, S. (2020) · Animal Genetics · doi:10.1111/age.12867 · Cited by 21 · see citing works
Human genetic adaptation related to cellular zinc homeostasis
Roca-Umbert, A., Garcia-Calleja, J., Vogel-González, M., Fierro-Villegas, A., Ill-Raga, G., Herrera-Fernández, V., Bosnjak, A., Muntané, G., Gutiérrez, E., Campelo, F., et al. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1010950 · Cited by 8 · see citing works
“We first explored the genomic signatures of the selective sweep previously reported in the SLC30A9 gene region [14,16–18 ,20 ,25].”
Putilov, A. A., Dorokhov, V. B., & Poluektov, M. G. (2018) · Chronobiology International · doi:10.1080/07420528.2017.1417314 · Cited by 8 · see citing works
- Authors
- 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., & Pritchard, J. K.
- Affiliations
- University of Chicago (US)
- University of California, Los Angeles (US)
- University of Michigan (US)
- Stanford University (US)
- HudsonAlpha Institute for Biotechnology (US)
- Howard Hughes Medical Institute (US)
- ORCID
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2009-03-23
- Volume
- 19
- Issue
- 5
- Pages
- 826-837
- ISSN
- 1088-9051 (ISSN-L)
- PMC
- PMC2675971
- OpenAlex
- W2098460741
- Semantic Scholar
- c6e6cf890df9d86381ff9c0436ea25833e502af1
- Cited by
- 717
- References
- 98
- Citations by year
- 2026: 9 · 2025: 11 · 2024: 15 · 2023: 16 · 2022: 21 · 2021: 41 · 2020: 30 · 2019: 31 · 2018: 37 · 2017: 35 · 2016: 50 · 2015: 61 · 2014: 72 · 2013: 61 · 2012: 75
- Type
- posted content
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- other-oa
- Locations
- Genome Research (publishedVersion, other-oa)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Science Foundation (0619926)
- Howard Hughes Medical Institute
- University of Chicago
- National Institutes of Health
- National Institute of General Medical Sciences (GM28016, R01GM028016)
- 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
- selective sweeps, human genetic variation, local adaptation, non-African populations
- MeSH terms
- Diabetes Mellitus, Type 2, Genetics, Population, Humans, Phenotype, Selection, Genetic, Genome, Human, Genetic Predisposition to Disease, Neuregulins, Genome-Wide Association Study, ErbB Receptors, Receptor, ErbB-4
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