Revising the human mutation rate: implications for understanding human evolution
Abstract
It is now possible to make direct measurements of the mutation rate in modern humans using next-generation sequencing. These measurements reveal a value that is approximately half of that previously derived from fossil calibration, and this has implications for our understanding of demographic events in human evolution and other aspects of population genetics. Here, we discuss the implications of a lower-than-expected mutation rate in relation to the timescale of human evolution.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
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 older assumption that the human lineage's mutation rate changed little since the human-chimpanzee common ancestor is losing credibility because direct mutation rate estimates conflict with molecular-clock-based estimates.
“It was once assumed that the human lineage's mutation rate had changed little since we shared a common ancestor with chimpanzees, but this assumption is losing credibility owing to the conflict between direct mutation rate estimates and molecular-clock-based estimates (8,9).”
From Evidence for recent, population-specific evolution of the human mutation rate (2015) · cites this paper as [9]
Cites
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877 · see citing works
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057 · see citing works
A draft sequence of the Neandertal genome
Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science · doi:10.1126/science.1188021 · Cited by 4,318 · see citing works
Inference of human population history from individual whole-genome sequences
Li, H., & Durbin, R. (2011) · Nature · doi:10.1038/nature10231 · Cited by 2,590 · see citing works
Self-citationSporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · see citing works
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084 · see citing works
Genetic history of an archaic hominin group from Denisova Cave in Siberia
Reich, D., Green, R. E., Kircher, M., Krause, J., Patterson, N., Durand, E. Y., Viola, B., Briggs, A. W., Stenzel, U., Johnson, P. L. F., et al. (2010) · Nature · doi:10.1038/nature09710 · Cited by 1,991 · see citing works
The biogeography of mitochondrial and nuclear discordance in animals
Toews, D. P. L., & Brelsford, A. (2012) · Molecular Ecology · doi:10.1111/j.1365-294x.2012.05664.x · Cited by 1,673 · see citing works
Primate adaptation and evolution
(1989) · Choice Reviews Online · doi:10.5860/choice.26-3889 · Cited by 1,246 · see citing works
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Roach, J. C., Glusman, G., Smit, A. F. A., Huff, C. D., Hubley, R., Shannon, P. T., Rowen, L., Pant, K. P., Goodman, N., Bamshad, M., et al. (2010) · Science · doi:10.1126/science.1186802 · Cited by 1,084 · see citing works
Paleontological Evidence to Date the Tree of Life
Benton, M. J., & Donoghue, P. C. J. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msl150 · Cited by 916 · see citing works
Rate, molecular spectrum, and consequences of human mutation
Lynch, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912629107 · Cited by 792 · see citing works
The complete mitochondrial DNA genome of an unknown hominin from southern Siberia
Krause, J., Fu, Q., Good, J. M., Viola, B., Shunkov, M. V., Derevianko, A. P., & Pääbo, S. (2010) · Nature · doi:10.1038/nature08976 · Cited by 792 · see citing works
An aboriginal Australian genome reveals separate human dispersals into Asia
Rasmussen, M., Guo, X., Wang, Y., Lohmueller, K. E., Rasmussen, S., Albrechtsen, A., Skotte, L., Lindgreen, S., Metspalu, M., Jombart, T., et al. (2011) · Science · doi:10.1126/science.1211177 · Cited by 787 · see citing works
Insights into hominid evolution from the gorilla genome sequence
Scally, A., Dutheil, J. Y., Hillier, L. W., Jordan, G. E., Goodhead, I., Herrero, J., Hobolth, A., Lappalainen, T., Mailund, T., Marquès‐Bonet, T., et al. (2012) · Nature · doi:10.1038/nature10842 · Cited by 760 · see citing works
Self-citationCorrecting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock
Soares, P. A., Ermini, L., Thomson, N., Mormina, M., Rito, T., Röhl, A., Salas, A., Oppenheimer, S., Macaulay, V. A., & Richards, M. B. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.05.001 · Cited by 729 · see citing works
Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania
Reich, D., Patterson, N., Kircher, M., Delfin, F., Nandineni, M. R., Pugach, I., Ko, A. M.-S., Ko, Y.-C., Jinam, T. A., Phipps, M. E., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.005 · Cited by 656 · see citing works
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
Nelson, M. R., Wegmann, D., Ehm, M. G., Kessner, D., St. Jean, P., Verzilli, C., Shen, J., Tang, Z., Bacanu, S.-A., Fraser, D., et al. (2012) · Science · doi:10.1126/science.1217876 · Cited by 647 · see citing works
Demographic history and rare allele sharing among human populations
Gravel, S., Henn, B. M., Gutenkunst, R. N., Indap, A. R., Marth, G., Clark, A. G., Yu, F., Gibbs, R. A., The 1000 Genomes Project, Bustamante, C. D., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1019276108 · Cited by 625 · see citing works
Self-citationA Complete Neandertal Mitochondrial Genome Sequence Determined by High-Throughput Sequencing
Green, R. E., Malaspinas, A., Krause, J., Briggs, A. W., Johnson, P. L. F., Uhler, C., Meyer, M., Good, J. M., Maričić, T., Stenzel, U., et al. (2008) · Cell · doi:10.1016/j.cell.2008.06.021 · Cited by 601 · see citing works
Comparative and demographic analysis of orang-utan genomes
Locke, D. P., Hillier, L. W., Warren, W. C., Worley, K. C., Nazareth, L. V., Muzny, D. M., Yang, S., Wang, Z., Chinwalla, A., Minx, P., et al. (2011) · Nature · doi:10.1038/nature09687 · Cited by 598 · see citing works
Genetic evidence for complex speciation of humans and chimpanzees
Patterson, N. J., Richter, D. J., Gnerre, S., Lander, E. S., & Reich, D. (2006) · Nature · doi:10.1038/nature04789 · Cited by 582 · see citing works
Variation in genome-wide mutation rates within and between human families
the 1000 Genomes Project (2011) · Nature Genetics · doi:10.1038/ng.862 · Cited by 581 · see citing works
Bayesian inference of ancient human demography from individual genome sequences
Gronau, I., Hubisz, M. J., Gulko, B., Danko, C. G., & Siepel, A. C. (2011) · Nature Genetics · doi:10.1038/ng.937 · Cited by 580 · see citing works
Time-dependent rates of molecular evolution
Ho, S. Y. W., Lanfear, R., Bromham, L. D., Phillips, M. J., Soubrier, J., Rodrigo, A. G., & Cooper, A. (2011) · Molecular Ecology · doi:10.1111/j.1365-294x.2011.05178.x · Cited by 566 · see citing works
The Southern Route “Out of Africa”: Evidence for an Early Expansion of Modern Humans into Arabia
Armitage, S. J., Jasim, S., Marks, A. E., Parker, A. G., Usik, V. I., & Uerpmann, H. (2011) · Science · doi:10.1126/science.1199113 · Cited by 545 · see citing works
A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root
Behar, D. M., van Oven, M., Rosset, S., Metspalu, M., Loogväli, E., Silva, N. M., Kivisild, T., Torroni, A., & Villems, R. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.03.002 · Cited by 522 · see citing works
Primate Adaptation and Evolution
Dunbar, R., & Fleagle, J. G. (1999) · Journal of the Royal Anthropological Institute · doi:10.2307/2661176 · Cited by 519 · see citing works
Fenner, J. N. (2005) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20188 · Cited by 508 · see citing works
The rate of spontaneous mutation of a human gene
Haldane, J. B. S. (2004) · Journal of Genetics · doi:10.1007/bf02717892 · Cited by 472 · see citing works
The Dawn of Human Matrilineal Diversity
Behar, D. M., Villems, R., Soodyall, H., Blue-Smith, J., Pereira, L., Metspalu, E., Scozzari, R., Makkan, H., Tzur, S., Comas, D., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.04.002 · Cited by 454 · see citing works
Molecular clocks: when timesare a-changin'
HO, S., & LARSON, G. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.11.006 · Cited by 402 · see citing works
Direct estimation of per nucleotide and genomic deleterious mutation rates in Drosophila
Liautard‐Haag, C., Dorris, M., Maside, X., Macaskill, S., Halligan, D. L., Charlesworth, B., & Keightley, P. D. (2007) · Nature · doi:10.1038/nature05388 · Cited by 396 · see citing works
Dating the colonization of Sahul (Pleistocene Australia–New Guinea): a review of recent research
O’Connell, J., & Allen, J. (2004) · Journal of Archaeological Science · doi:10.1016/j.jas.2003.11.005 · Cited by 378 · see citing works
(2002) · Choice Reviews Online · doi:10.5860/choice.40-2181 · Cited by 371 · see citing works
Middle Paleolithic Assemblages from the Indian Subcontinent Before and After the Toba Super-Eruption
Petraglia, M. D., Korisettar, R., Boivin, N. L., Clarkson, C., Ditchfield, P. W., Jones, S., Koshy, J., Lahr, M. M., Oppenheimer, C., Pyle, D. M., et al. (2007) · Science · doi:10.1126/science.1141564 · Cited by 343 · see citing works
High mutation rate and predominance of insertions in the Caenorhabditis elegans nuclear genome
Denver, D. R., Morris, K., Lynch, M., & Thomas, W. K. (2004) · Nature · doi:10.1038/nature02697 · Cited by 340 · see citing works
Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases
Kondrashov, A. S. (2002) · Human Mutation · doi:10.1002/humu.10147 · Cited by 336 · see citing works
An early modern human from the Peştera cu Oase, Romania
Trinkaus, E., Moldovan, O. T., Milota, Ş., Bîlgăr, A., Sarcină, L., Athreya, S. G., Bailey, S. E., Rodrigo, R., Gherase, M., Higham, T., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2035108100 · Cited by 319 · see citing works
Wet phases in the Sahara/Sahel region and human migration patterns in North Africa
Castañeda, I. S., Mulitza, S., Schefuß, E., Lopes dos Santos, R. A., Sinninghe Damsté, J. S., & Schouten, S. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0905771106 · Cited by 310 · see citing works
Genetic evidence for archaic admixture in Africa
Hammer, M. F., Woerner, A. E., Mendez, F. L., Watkins, J. C., & Wall, J. D. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1109300108 · Cited by 304 · see citing works
The earliest evidence for anatomically modern humans in northwestern Europe
Higham, T., Compton, T., Stringer, C. B., Jacobi, R. M., Shapiro, B., Trinkaus, E., Chandler, B., Gröning, F., Collins, C., Hillson, S. W., et al. (2011) · Nature · doi:10.1038/nature10484 · Cited by 302 · see citing works
Osborne, A. H., Vance, D., Rohling, E. J., Barton, N., Rogerson, M., & Fello, N. M. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804472105 · Cited by 291 · see citing works
The Expansion of mtDNA Haplogroup L3 within and out of Africa
Soares, P. A., Alshamali, F., Pereira, J. B., Fernandes, V., Silva, N. M., Afonso, C., Costa, M. D., Musilová, E., Macaulay, V. A., Richards, M. B., et al. (2011) · Molecular Biology and Evolution · doi:10.1093/molbev/msr245 · Cited by 254 · see citing works
Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
Awadalla, P., Gauthier, J., Myers, R. A., Casals, F., Hamdan, F. F., Griffing, A. R., Côté, M., Henrion, É., Spiegelman, D., Tarabeux, J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.019 · Cited by 235 · see citing works
The Nubian Complex of Dhofar, Oman: An African Middle Stone Age Industry in Southern Arabia
Rose, J. I., Usik, V. I., Marks, A. E., Hilbert, Y. H., Galletti, C. S., Parton, A., Geiling, J. M., Černý, V., Morley, M. W., & Roberts, R. G. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028239 · Cited by 231 · see citing works
How Robust Are "Isolation with Migration" Analyses to Violations of the IM Model? A Simulation Study
Strasburg, J. L., & Rieseberg, L. H. (2009) · Molecular Biology and Evolution · doi:10.1093/molbev/msp233 · Cited by 228 · see citing works
Is Homo heidelbergensis a distinct species? New insight on the Mauer mandible
Mounier, A., Marchal, F., & Condémi, S. (2009) · Journal of Human Evolution · doi:10.1016/j.jhevol.2008.12.006 · Cited by 219 · see citing works
Watching the clock: Studying variation in rates of molecular evolution between species
Lanfear, R., Welch, J. J., & Bromham, L. D. (2010) · Trends in Ecology & Evolution · doi:10.1016/j.tree.2010.06.007 · Cited by 196 · see citing works
Humid periods in southern Arabia: Windows of opportunity for modern human dispersal
Rosenberg, T. M., Preusser, F., Dominik Fleitmann, A., Schwalb, A., Penkman, K. E. H., Schmid, T. W., Al-Shanti, M. A., Kadi, K. A., & Albert Matter, B. (2011) · Geology · doi:10.1130/g32281.1 · Cited by 184 · see citing works
Takahata, N., & Satta, Y. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.9.4811 · Cited by 177 · see citing works
Endicott, P., Ho, S. Y. W., & Stringer, C. (2010) · Journal of Human Evolution · doi:10.1016/j.jhevol.2010.04.005 · Cited by 165 · see citing works
African human diversity, origins and migrations
Reed, F. A., & Tishkoff, S. A. (2006) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2006.10.008 · Cited by 162 · see citing works
U-Series dating of Liujiang hominid site in Guangxi, Southern China
Shen, G. (2002) · Journal of Human Evolution · doi:10.1006/jhev.2002.0601 · Cited by 160 · see citing works
Veeramah, K. R., Wegmann, D., Woerner, A. E., Mendez, F. L., Watkins, J. C., Destro‐Bisol, G., Soodyall, H., Louie, L. G., & Hammer, M. F. (2011) · Molecular Biology and Evolution · doi:10.1093/molbev/msr212 · Cited by 139 · see citing works
Pinhasi, R., Higham, T., Golovanova, L. V., & Doronichev, V. B. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1018938108 · Cited by 127 · see citing works
Demographic observations (1963–1973) on the chimpanzees of Gombe National Park, Tanzania
Teleki, G., Hunt, E. E., & Pfifferling, J.-H. (1976) · Journal of Human Evolution · doi:10.1016/0047-2484(76)90004-x · Cited by 126 · see citing works
LEARNING ABOUT MODES OF SPECIATION BY COMPUTATIONAL APPROACHES
Becquet, C., & Przeworski, M. (2009) · Evolution · doi:10.1111/j.1558-5646.2009.00662.x · Cited by 119 · see citing works
Bayesian Inference of the Demographic History of Chimpanzees
Wegmann, D., & Excoffier, L. (2010) · Molecular Biology and Evolution · doi:10.1093/molbev/msq028 · Cited by 116 · see citing works
Evaluating the mitochondrial timescale of human evolution
Endicott, P., Ho, S. Y. W., Metspalu, M., & Stringer, C. B. (2009) · Trends in Ecology & Evolution · doi:10.1016/j.tree.2009.04.006 · Cited by 109 · see citing works
Variable molecular clocks in hominoids
Elango, N., Thomas, J. W., Program§, N. C. S., & Yi, S. V. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0510716103 · Cited by 105 · see citing works
A Bayesian Evaluation of Human Mitochondrial Substitution Rates
Endicott, P., & Ho, S. Y. W. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.019 · Cited by 98 · see citing works
Heterogeneous Genomic Molecular Clocks in Primates
Kim, S., Elango, N., Warden, C., Vigoda, E., & Yi, S. V. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020163 · Cited by 92 · see citing works
A critique of the chronometric evidence for hominid fossils: I. Africa and the Near East 500–50ka
Millard, A. R. (2008) · Journal of Human Evolution · doi:10.1016/j.jhevol.2007.11.002 · Cited by 91 · see citing works
Early Human Evolution in the Western Palaearctic: Ecological Scenarios
Carrión, J. S., Rose, J., & Stringer, C. B. (2011) · Quaternary Science Reviews · doi:10.1016/j.quascirev.2011.04.003 · Cited by 90 · see citing works
Zhu, T., & Yang, Z. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/mss118 · Cited by 82 · see citing works
Hoffecker, J. F., Holliday, V. T., Васильевич, А. М., Sinitsyn, A. A., Popov, V. V., Lisitsyn, S., Levkovskaya, G. M., Pospelova, G. A., Forman, S. L., & Giaccio, B. (2008) · Journal of Human Evolution · doi:10.1016/j.jhevol.2008.08.018 · Cited by 79 · see citing works
Stringer, C. (2012) · Nature · doi:10.1038/485033a · Cited by 71 · see citing works
Steiper, M. E., & Young, N. M. (2008) · Evolutionary Anthropology Issues News and Reviews · doi:10.1002/evan.20177 · Cited by 63 · see citing works
Human-macaque comparisons illuminate variation in neutral substitution rates
Tyekucheva, S., Makova, K. D., Karro, J. E., Hardison, R. C., Miller, W., & Chiaromonte, F. (2008) · Genome biology · doi:10.1186/gb-2008-9-4-r76 · Cited by 49 · see citing works
(1921) · The Annals of Iowa · doi:10.17077/0003-4827.4250 · Cited by 37 · see citing works
Mass spectrometric U-series dating of Laibin hominid site in Guangxi, southern China
Shen, G., Wang, W., Cheng, H., et al. (2007) · Journal of Archaeological Science · doi:10.1016/j.jas.2007.02.008 · Cited by 35 · see citing works
Generation time and effective population size in Polar Eskimos
Matsumura, S., & Forster, P. (2008) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2007.1724 · Cited by 32 · see citing works
Did Modern Humans Travel Out of Africa Via Arabia?
Lawler, A. J. (2011) · Science · doi:10.1126/science.331.6016.387 · Cited by 7 · see citing works
Kirby, W. F. (1900) · Nature · doi:10.1038/063029c0 · Cited by 2 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
The complete genome sequence of a Neanderthal from the Altai Mountains
Prüfer, K., Racimo, F., Patterson, N., Jay, F., Sankararaman, S., Sawyer, S., Heinze, A., Renaud, G., Sudmant, P. H., de Filippo, C., et al. (2014) · Nature · doi:10.1038/nature12886 · Cited by 2,254 · 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
Genome sequence of a 45,000-year-old modern human from western Siberia
Fu, Q., Li, H., Moorjani, P., Jay, F., Slepchenko, S. M., Bondarev, A. A., Johnson, P. L. F., Aximu-Petri, A., Prüfer, K., de Filippo, C., et al. (2014) · Nature · doi:10.1038/nature13810 · Cited by 1,023 · see citing works
De novo mutations in histone-modifying genes in congenital heart disease
Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature · doi:10.1038/nature12141 · Cited by 934 · see citing works
A high-coverage Neandertal genome from Vindija Cave in Croatia
Prüfer, K., de Filippo, C., Grote, S., Mafessoni, F., Korlević, P., Hajdinjak, M., Vernot, B., Skov, L., Hsieh, P., Peyrégne, S., et al. (2017) · Science · doi:10.1126/science.aao1887 · Cited by 719 · see citing works
Tracing the peopling of the world through genomics
Nielsen, R., Akey, J. M., Jakobsson, M., Pritchard, J. K., Tishkoff, S., & Willerslev, E. (2017) · Nature · doi:10.1038/nature21347 · Cited by 728 · see citing works
A Revised Timescale for Human Evolution Based on Ancient Mitochondrial Genomes
Fu, Q., Mittnik, A., Johnson, P. L. F., Bos, K., Lari, M., Bollongino, R., Sun, C., Giemsch, L., Schmitz, R., Burger, J., et al. (2013) · Current Biology · doi:10.1016/j.cub.2013.02.044 · Cited by 709 · see citing works
A genomic history of Aboriginal Australia
Malaspinas, A.-S., Westaway, M. C., Muller, C., Sousa, V. C., Lao, O., Alves, I., Bergström, A., Athanasiadis, G., Cheng, J. Y., Crawford, J. E., et al. (2016) · Nature · doi:10.1038/nature18299 · Cited by 650 · see citing works
Self-citationWhole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.11.019 · Cited by 544 · see citing works
Genomic evidence for the Pleistocene and recent population history of Native Americans
Raghavan, M., Steinrücken, M., Harris, K., Schiffels, S., Rasmussen, S., DeGiorgio, M., Albrechtsen, A., Valdiosera, C., Ávila-Arcos, M. C., Malaspinas, A.-S., et al. (2015) · Science · doi:10.1126/science.aab3884 · Cited by 540 · see citing works
Self-citationSouthern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago
Schlebusch, C. M., Malmström, H., Günther, T., Sjödin, P., Coutinho, A., Edlund, H., Munters, A. R., Vicente, M., Steyn, M., Soodyall, H., et al. (2017) · Science · doi:10.1126/science.aao6266 · Cited by 519 · see citing works
The Genetic Cost of Neanderthal Introgression
Harris, K., & Nielsen, R. (2016) · Genetics · doi:10.1534/genetics.116.186890 · Cited by 419 · see citing works
On the origin of modern humans: Asian perspectives
Bae, C. J., Douka, K., & Petraglia, M. D. (2017) · Science · doi:10.1126/science.aai9067 · Cited by 471 · see citing works
Analysis of Human Sequence Data Reveals Two Pulses of Archaic Denisovan Admixture
Browning, S. R., Browning, B. L., Zhou, Y., Tucci, S., & Akey, J. M. (2018) · Cell · doi:10.1016/j.cell.2018.02.031 · Cited by 381 · see citing works
Bayesian molecular clock dating of species divergences in the genomics era
dos Reis, M., Donoghue, P. C. J., & Yang, Z. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.8 · Cited by 339 · see citing works
Determinants of Mutation Rate Variation in the Human Germline
Ségurel, L., Wyman, M. J., & Przeworski, M. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-031714-125740 · Cited by 289 · see citing works
The Human Condition—A Molecular Approach
Pääbo, S. (2014) · Cell · doi:10.1016/j.cell.2013.12.036 · Cited by 197 · see citing works
Craniofacial feminization, social tolerance, and the origins of behavioral modernity
Cieri, R. L., Churchill, S. E., Franciscus, R. G., Tan, J., & Hare, B. (2014) · Current Anthropology · doi:10.1086/677209 · Cited by 195 · see citing works
Carmi, S., Hui, K. Y., Kochav, E., Liu, X., Xue, J., Grady, F., Guha, S., Upadhyay, K., Ben-Avraham, D., Mukherjee, S., et al. (2014) · Nature Communications · doi:10.1038/ncomms5835 · Cited by 188 · see citing works
Evidence for recent, population-specific evolution of the human mutation rate
Harris, K. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1418652112 · Cited by 165 · see citing works
Direct estimation of mutations in great apes reconciles phylogenetic dating
Besenbacher, S., Hvilsom, C., Marques-Bonet, T., Mailund, T., & Schierup, M. H. (2019) · Nature Ecology & Evolution · doi:10.1038/s41559-018-0778-x · Cited by 165 · see citing works
Arnold, L. J., Demuro, M., Parés, J. M., Arsuaga, J. L., Aranburu, A., Bermúdez de Castro, J. M., & Carbonell, E. (2014) · Journal of Human Evolution · doi:10.1016/j.jhevol.2013.12.001 · Cited by 149 · see citing works
An evolutionary anthropological perspective on modern human origins.
Marean, C. W. (2015) · Annual Review of Anthropology · doi:10.1146/annurev-anthro-102313-025954 · Cited by 135 · see citing works
The impact of the rate prior on Bayesian estimation of divergence times with multiple Loci
Dos Reis, M., Zhu, T., & Yang, Z. (2014) · Systematic Biology · doi:10.1093/sysbio/syu020 · Cited by 93 · see citing works
Evolutionary history and adaptation of a human pygmy population of Flores Island, Indonesia
Tucci, S., Vohr, S. H., McCoy, R. C., Vernot, B., Robinson, M. R., Barbieri, C., Nelson, B. J., Fu, W., Purnomo, G. A., Sudoyo, H., et al. (2018) · Science · doi:10.1126/science.aar8486 · Cited by 97 · see citing works
Nuclear DNA from two early Neandertals reveals 80,000 years of genetic continuity in Europe
Peyrégne, S., Slon, V., Mafessoni, F., de Filippo, C., Hajdinjak, M., Nagel, S., Nickel, B., Essel, E., Le Cabec, A., Wehrberger, K., et al. (2019) · Science Advances · doi:10.1126/sciadv.aaw5873 · Cited by 82 · see citing works
Model‐based detection and analysis of introgressed Neanderthal ancestry in modern humans
Steinrücken, M., Spence, J. P., Kamm, J. A., Wieczorek, E., & Song, Y. S. (2018) · Molecular Ecology · doi:10.1111/mec.14565 · Cited by 73 · see citing works
The evolutionary history of human spindle genes includes back-and-forth gene flow with Neandertals
Peyrégne, S., Kelso, J., Peter, B. M., & Pääbo, S. (2022) · eLife · doi:10.7554/elife.75464 · Cited by 24 · see citing works
- Authors
- Scally, A., & Durbin, R.
- Affiliations
- Wellcome Sanger Institute (GB)
- Corresponding author
- Scally, Aylwyn
- Durbin, Richard
- Venue
- Nature Reviews Genetics
- Published
- 2012-09-11
- Volume
- 13
- Issue
- 10
- Pages
- 745-753
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W1980496331
- Cited by
- 610
- References
- 75
- Citations by year
- 2026: 12 · 2025: 35 · 2024: 22 · 2023: 36 · 2022: 25 · 2021: 41 · 2020: 27 · 2019: 38 · 2018: 38 · 2017: 43 · 2016: 114 · 2015: 70 · 2014: 54 · 2013: 47 · 2012: 8
- FWCI
- 7.12
- Type
- journal article
- Language
- en
- Update notices
- erratum (2012-09-19)
- Open access
- closed
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust (WT 098051)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- fossil calibration, human evolution, demographic history, population genetics, molecular clock
- MeSH terms
- Animals, DNA, Mitochondrial, Geography, Humans, Models, Biological, Phylogeny, Hominidae, Evolution, Molecular, Comprehension, Genetic Speciation, Neanderthals, Mutation Rate
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
