Estimating the human mutation rate using autozygosity in a founder population.

Campbell, Catarina D, Chong, Jessica X, Malig, Maika, Ko, Arthur, Dumont, Beth L, Han, Lide, Vives, Laura, O'Roak, Brian J +5 more·2012·Nature Genetics
DOI 10.1038/ng.2418

Cited by (215)

Items 101–200 of 215

  1. De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease
    Daniel Melamed, Yuval Nov, Assaf Malik, Michael Bright Yakass, Evgeni Bolotin, Revital Shemer, Edem Kojo Hiadzi, Karl L. Skorecki, Adi Livnat · 2022 · Genome Research
  2. Hybridization Alters Spontaneous Mutation Rates in a Parent-of-Origin-Dependent Fashion in Arabidopsis
    Tufail Bashir, Christian Sailer, Florian Gerber, Nitin Loganathan, Hemadev Bhoopalan, Christof Eichenberger, Ueli Grossniklaus, Ramamurthy Baskar · 2014 · PLANT PHYSIOLOGY
  3. Heterogeneity of primordial germ cells
    Daniel H. Nguyen, Rebecca Garrett Jaszczak, Diana J. Laird · 2019 · Current topics in developmental biology/Current Topics in Developmental Biology
  4. An estimator of first coalescent time reveals selection on young variants and large heterogeneity in rare allele ages among human populations
    Alexander Platt, Alyssa M. Pivirotto, Jared G. Knoblauch, Jody Hey · 2019 · PLoS Genetics
  5. Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis
    Karyn Meltz Steinberg, Thomas J. Nicholas, Daniel C. Koboldt, Bing Yu, Elaine R. Mardis, Roger Pamphlett · 2015 · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
  6. Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency
    Jason M. O’Brien, Marc A. Beal, John D. Gingerich, Lynda M. Soper, George R. Douglas, Carole Lyn Yauk, Francesco Marchetti · 2014 · Journal of Visualized Experiments
  7. Strategies to enable the adoption of animal biotechnology to sustainably improve global food safety and security
    Mark L. Tizard, Eric M. Hallerman, Scott C. Fahrenkrug, Martina Newell‐McGloughlin, John P. Gibson, F.A.M. de Loos, Stefan Wagner, Götz Laible, Jae Yong Han, Michael J. D’Occhio et al. · 2016 · Transgenic Research
  8. Signals of Historical Interlocus Gene Conversion in Human Segmental Duplications
    Beth L. Dumont, Evan E. Eichler · 2013 · PLoS ONE
  9. Significant Strain Variation in the Mutation Spectra of Inbred Laboratory Mice
    Beth L. Dumont · 2019 · Molecular Biology and Evolution
  10. Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing
    Audrey Guilmatre, Gareth Highnam, Christelle Borel, David Mittelman, Andrew J. Sharp · 2013 · Human Mutation
  11. Characterizing the Rates and Patterns of De Novo Germline Mutations in the Aye-Aye ( Daubentonia madagascariensis )
    Cyril J. Versoza, Erin E. Ehmke, Jeffrey D. Jensen, Susanne P. Pfeifer · 2025 · Molecular Biology and Evolution
  12. MPYS Modulates Fatty Acid Metabolism and Immune Tolerance at Homeostasis Independent of Type I IFNs
    Samira Mansouri, Himanshu Gogoi, Seema Patel, Divya Sai Katikaneni, Arashdeep Singh, Alexandra a Aybar-Torres, Guillaume de Lartigue, Lei Jin · 2022 · The Journal of Immunology
  13. Spontaneous Mutation Rates
    Susanne P. Pfeifer · 2020 · Springer eBooks
  14. Interlocus gene conversion explains at least 2.7 % of single nucleotide variants in human segmental duplications
    Beth L. Dumont · 2015 · BMC Genomics
  15. Evaluation of chemical mutagenicity using next generation sequencing: A review
    Hua Du, Bo-Hu Pan, Tao Chen · 2017 · Journal of Environmental Science And Health Part C - Environmental Carcinogenesis & Ecotoxicology Reviews
  16. The Effect of Paternal Age on Offspring Intelligence and Personality when Controlling for Parental Trait Levels
    Ruben C. Arslan, Lars Penke, Wendy Johnson, William G. Iacono, Matt K. McGue · 2014 · PLoS ONE
  17. Genetic structure and effective population size of Sydney rock oysters in eastern Australia
    Jessica A O'Hare, Paolo Momigliano, David A. Raftos, Adam Stow · 2021 · Conservation Genetics
  18. Targeted capture and sequencing of 1245 SNPs for forensic applications
    Liangjun Wu, Xufeng Chu, Jing Zheng, Chao Xiao, Zhe Zhang, Guiyang Huang, Dan Li, Jinbang Zhan, Daixin Huang, Ping Hu et al. · 2019 · Forensic Science International Genetics
  19. Predicting Carriers of Ongoing Selective Sweeps without Knowledge of the Favored Allele
    Roy Ronen, Glenn Tesler, Ali Akbari, Shay Zakov, Noah A. Rosenberg, Vineet Bafna · 2015 · PLoS Genetics
  20. Parental Age Affects Somatic Mutation Rates in the Progeny of Flowering Plants
    Amit Kumar Singh, Tufail Bashir, Christian Sailer, Viswanathan Gurumoorthy, Anantha Maharasi Ramakrishnan, Shanmuhapreya Dhanapal, Ueli Grossniklaus, Ramamurthy Baskar · 2015 · PLANT PHYSIOLOGY
  21. Dissecting genetic and environmental mutation signatures with model organisms
    Romulo Segovia, Annie Tam, Peter C. Stirling · 2015 · Trends in Genetics
  22. Novel diet-related mouse model of colon cancer parallels human colon cancer
    Anil R Prasad · 2014 · World Journal of Gastrointestinal Oncology
  23. Muver, a computational framework for accurately calling accumulated mutations
    Adam Burkholder, Scott A. Lujan, Christopher A. Lavender, Sara A. Grimm, Thomas A. Kunkel, David C. Fargo · 2018 · BMC Genomics
  24. The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins
    Mar Infante, M. Duran, Alberto Acedo, Eva María Sánchez-Tapia, Beatriz Díez‐Gómez, A. Barroso, M. Garcia-Gonzalez, Lídia Feliubadaló, Adriana Lasa, Miguel de la Hoya et al. · 2013 · Carcinogenesis
  25. Genetic drift drives rapid speciation of an Arctic insular endemic shrew (Sorex pribilofensis)
    Ben J. Wiens, Fraser J. Combe, Bobette R. Dickerson, Lauren M. Divine, Veronica M. Padula, George K. Sage, Sandra Looman Talbot, Andrew G. Hope · 2022 · Molecular Ecology
  26. Older males beget more mutations
    Matthew E. Hurles · 2012 · Nature Genetics
  27. The Impact of Accelerating Faster than Exponential Population Growth on Genetic Variation
    Mark Reppell, Michael Boehnke, Sebastian K. Zöllner · 2014 · Genetics
  28. Discovery of genomic variation across a generation
    Brett Trost, Livia Oliveira Loureiro, Stephen W. Scherer · 2021 · Human Molecular Genetics
  29. The Case of “Missing Causal Genes” and the Practice of Medicine
    Ali J. Marian · 2016 · Circulation Research
  30. Estimating the genome-wide mutation rate from thousands of unrelated individuals
    Xiaowen Tian, Ruoyi Cai, Sharon R. Browning · 2022 · The American Journal of Human Genetics
  31. Exploring the effects of immunity and life history on the dynamics of an endogenous retrovirus
    Ravinder K. Kanda, Michael Tristem, Tim N Coulson · 2013 · Philosophical Transactions of the Royal Society B Biological Sciences
  32. A worldwide map of swine short tandem repeats and their associations with evolutionary and environmental adaptations
    Zhongzi Wu, Huanfa Gong, Mingpeng Zhang, Xinkai Tong, Huashui Ai, Shijun Xiao, Miguel Pérez-enciso A, Bin Juan Yang, Lusheng Huang · 2021 · Genetics Selection Evolution
  33. Development of a SNP-based panel for human identification for Indian populations
    Anujit Sarkar, Madhusudan Reddy Nandineni · 2016 · Forensic Science International Genetics
  34. Human germline mutation and the erratic evolutionary clock
    Priya Moorjani, Ziyue Gao, Molly Przeworski · 2016 · bioRxiv (Cold Spring Harbor Laboratory)
  35. RETRACTED: An innovative panel containing a set of insertion/deletion loci for individual identification and its forensic efficiency evaluations in Chinese Hui ethnic minority
    Wei Cui, Xiaoye Jin, Yuxin Guo, Chong Chen, Wenqing Zhang, Tingting Kong, Haotian Meng, Bofeng Zhu · 2019 · Molecular Genetics & Genomic Medicine · Retracted
  36. A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals
    Vagheesh M. Narasimhan, Raheleh Rahbari, Aylwyn Scally, Arthur Wüster, Dan Mason, Yali Xue, John Wright, Richard C. Trembath, Eamonn Richard Maher, David A. van Heel et al. · 2016 · bioRxiv (Cold Spring Harbor Laboratory)
  37. Twins and omics: the role of twin studies in multi-omics
    Fiona A. Hagenbeek, Jenny van Dongen, René Pool, Dorret Irene Boomsma · 2022 · Elsevier eBooks
  38. Concurrent Nucleotide Substitution Mutations in the Human Genome Are Characterized by a Significantly Decreased Transition/Transversion Ratio
    Wenjuan Zhu, D.N. Cooper, Qiang Zhao, Ye Wang, Ruihong Liu, Qibin Li, Claude Férec, Yiming Wang, Jian‐Min Chen · 2014 · Human Mutation
  39. Transgenic Rodent Assay for Quantifying Male Germ Cell Mutant Frequency
    Jason M. O’Brien, Marc A. Beal, John D. Gingerich, Lynda M. Soper, George R. Douglas, Carole Lyn Yauk, Francesco Marchetti · 2014 · Journal of Visualized Experiments
  40. Recent Insights Into the Evolutionary Genomics of the Critically Endangered Aye‐Aye ( Daubentonia madagascariensis )
    Vivak Soni, Susanne P. Pfeifer, Jeffrey D. Jensen · 2025 · American Journal of Primatology
  41. The cause of cancer mutations: Improvable bad life or inevitable stochastic replication errors?
    И. В. Алексеенко, Alexey I. Kuzmich, Victor V. Pleshkan, D. V. Tyulkina, Marina V. Zinovyeva, М. Б. Костина, Eugene D. Sverdlov · 2016 · Molecular Biology
  42. Ancestral haplotype reconstruction in endogamous populations using identity-by-descent
    Kelly Finke, Michael Κourakos, Gabriela Brown, Huyen Trang Dang, Shi Jie Samuel Tan, Yuval B. Simons, Shweta Ramdas, Alejandro A. Schäffer, Rachel L. Kember, Maja Bućan et al. · 2021 · PLoS Computational Biology
  43. Analysis of the Whole-Genome Sequences from an Equus Parent-Offspring Trio Provides Insight into the Genomic Incompatibilities in the Hybrid Mule
    Xiujuan Ren, Yuanyi Liu, Yiping Zhao, Bei Li, Dongyi Bai, Gerelchimeg Bou, Xinzhuang Zhang, Ming Du, Xisheng Wang, Tugeqin Bou et al. · 2022 · Genes
  44. HaploSweep: Detecting and Distinguishing Recent Soft and Hard Selective Sweeps through Haplotype Structure
    Shilei Zhao, Lianjiang Chi, M. Fu, Hua Chen · 2024 · Molecular Biology and Evolution
  45. Germline De Novo Mutations as a Cause of Childhood Cancer
    Wafaa M. Rashed, Erin L. Marcotte, Logan G. Spector · 2022 · JCO Precision Oncology
  46. The disparity mutagenesis model predicts rescue of living things from catastrophic errors
    Mitsuru Furusawa · 2014 · Frontiers in Genetics
  47. Fastest Time to Cancer by Loss of Tumor Suppressor Genes
    Cynthia Sanchez‐Tapia, Frederic Y. M. Wan · 2014 · Bulletin of Mathematical Biology
  48. Developmental Instability, Mutation Load, and Neurodevelopmental Disorders
    Ronald A. Yeo, Steven W. Gangestad · 2015 · Wiley eBooks
  49. 2012 highlights in translational 'omics
    Charles Auffray, Timothy Caulfield, Muin J. Khoury, James R. Lupski, Matthias Georg Schwab, Timothy D. Veenstra · 2013 · Genome Medicine
  50. Mutation Prediction for Coronaviruses Using Genome Sequence and Recurrent Neural Networks
    Pranav Pushkar, Christo Ananth, Preeti Nagrath, Jehad F. Al‐Amri, Vividha, Anand Nayyar · 2022 · Computers, materials & continua/Computers, materials & continua (Print)
  51. CRISPR/Cas9 Editing: Sparking Discussion on Safety in Light of the Need for New Therapeutics
    Tiffany Carlaw, Linhua Zhang, Colin J. Ross · 2020 · Human Gene Therapy
  52. Assessing simulation-based supervised machine learning for demographic parameter inference from genomic data
    Arnaud Quelin, Frédéric Austerlitz, Flora Jay · 2025 · Heredity
  53. Characterization of de novo germline mutations suggests a strong male mutation bias in coppery titi monkeys ( Plecturocebus cupreus )
    Cyril J. Versoza, Karen Lisa Bales, Jeffrey D. Jensen, Susanne P. Pfeifer · 2026 · Molecular Biology and Evolution
  54. Appropriate Assignment of Fossil Calibration Information Minimizes the Difference between Phylogenetic and Pedigree Mutation Rates in Humans
    Renata Capellão, Elisa Maria Costa-Paiva, Carlos Guerra Schrago · 2018 · Life
  55. Evolutionary and functional lessons from human-specific amino acid substitution matrices
    Tair Shauli, Nadav Brandes, Michal Linial B · 2021 · NAR Genomics and Bioinformatics
  56. Benchmarking and optimization of methods for the detection of identity-by-descent in high-recombining Plasmodium falciparum genomes
    Bing Guo, Shannon Takala‐Harrison, Timothy D. O’Connor · 2025 · eLife
  57. clusIBD: Robust Detection of Identity-by-descent Segments Using Unphased Genetic Data from Poor-quality Samples
    Ran Li, Yu Zang, Zhentang Liu, Jingyi Yang, Nana Wang, Jiajun Liu, Enlin Wu, Riga Wu, Hongyu Sun · 2025 · Genomics Proteomics & Bioinformatics
  58. Position Effect Variegation: Role of the Local Chromatin Context in Gene Expression Regulation
    Lidiya V. Boldyreva, Evgeniya N. Andreyeva, Alexey V. Pindyurin · 2022 · Molecular Biology
  59. Loaded Dice for Human Genome Mutation
    Chris Paul Ponting · 2012 · Cell
  60. Epigenetic Reduction of DNA Repair in Progression to Cancer
    Carol Bernstein, Harris Bernstein · 2015 · InTech eBooks
  61. Massive variation of short tandem repeats with functional consequences across strains of Arabidopsis thaliana
    Maximilian O. Press, Rajiv C. McCoy, Ashley N. Hall, Joshua M. Akey, Christine Queitsch · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
  62. Quantifying the effects of computational filter criteria on the accurate identification of de novo mutations at varying levels of sequencing coverage
    Mark Milhaven, Aman Garg, Cyril J. Versoza, Susanne P. Pfeifer · 2025 · Heredity
  63. A Shifting Theoretical Framework for Biological Anthropology in 2012
    Adam P. Van Arsdale · 2013 · American Anthropologist
  64. Cost effective assay choice for rare disease study designs
    Desmond Campbell, Robert M. Porsch, Stacey Shawn Cherny, Valeria Capra, Elisa Merello, Patrizia De Marco, Pak Chung Sham, María-Mercé García-Barceló · 2015 · Orphanet Journal of Rare Diseases
  65. Effects of Radioactive Cesium-Containing Water on Mice
    Hiroo Nakajima · 2019 · Springer eBooks
  66. New statistical genetic methods for elucidating the history and evolution of human populations
    Mark Lipson · 2014 · DSpace@MIT (Massachusetts Institute of Technology)
  67. A model of autowave self-organization as a hierarchy of active media in the biological evolution
    Alla Sidorova, V. A. Tverdislov, Natalia Timurovna Levashova, А.С. Гараева · 2020 · Biosystems
  68. Unveiling the genetic landscape of high-altitude adaptive ethnic groups with polymorphic markers: Implications of comprehensive forensic appraisals and population genetic investigations
    Ming Zhao, Wei Cui, Hui Xu, Yunying Zhang, Bofeng Zhu · 2023 · Heliyon
  69. Mutants in our Midst
    William E. Friedman · 2013 · Arnoldia.
  70. Veränderungen im Genom: Mutationen
    Jochen Graw · 2020 · Springer eBooks
  71. An exploration of linkage fine‐mapping on sequences from case‐control studies
    Payman Nickchi, Charith Karunarathna, Jinko Graham · 2022 · Genetic Epidemiology
  72. Genomic inference of a human super bottleneck in Mid-Pleistocene transition
    Wangjie Hu, Ziqian Hao, Pengyuan Du, Fabio Di Vincenzo, Giorgio Manzi, Yi-Hsuan Pan, Haipeng Li · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
  73. De novo mutation rates at the single-mutation resolution in a human HBB gene-region associated with adaptation and genetic disease
    Daniel Melamed, Yuval Nov, Assaf Malik, Michael Bright Yakass, Evgeni Bolotin, Revital Shemer, Edem Kojo Hiadzi, Karl L. Skorecki, Adi Livnat · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
  74. Two sides of the coin
    2012 · Nature Genetics
  75. Benchmarking and Optimization of Methods for the Detection of Identity-By-Descent in High-Recombining Plasmodium falciparum Genomes
    Bing Guo, Shannon Takala‐Harrison, Timothy D. O’Connor · 2025 · eLife
  76. Benchmarking and optimization of methods for the detection of identity-by-descent in high-recombining Plasmodium falciparum genomes
    Bing Guo, Shannon Takala‐Harrison, Timothy D. O’Connor · 2025 · eLife
  77. Influence des variations spatio-temporelles de l’environnement sur la distribution actuelle de la diversité génétique des populations
    Rémi Tournebize · 2017
  78. Veränderungen im Genom: Mutationen
    Jochen Graw · 2015 · Springer eBooks
  79. WORLD OF REPRODUCTIVE BIOLOGY: Dads Transmit More Mutations
    C. Schubert · 2012 · Biology of Reproduction
  80. WORLD OF REPRODUCTIVE BIOLOGY: Coercive Molecule in Seminal Fluid Identified
    C. Schubert · 2012 · Biology of Reproduction
  81. Tempo and mode of genomic mutations unveil human evolutionary history.
    Yuichiro Hara · 2015 · Genes & Genetic Systems
  82. Statistical Analysis on the Experimental SNP Data Based on Neutral Theory
    Jian-Hong Sun, Haicheng Xu, Lou Qi-ming · 2015 · International Conference on Information Technology in Medicine and Education
  83. Inherited and de novo variation in human genomes
    Laurent C. Francioli · 2015 · Utrecht University Repository (Utrecht University)
  84. Errors in DNA replication and genetic diseases
    Ali J. Marian · 2013 · Current Opinion in Cardiology
  85. Bioinformatics Analysis of Sequence Data
    Anthony T. Papenfuss, Daniel Cameron, Jan Schröder, Ismael A. Vergara · 2016 · Springer eBooks
  86. Identifying the parent-of-origin of de novo SNVs in schizophrenia
    Laura Escudero Monreal · 2013 · RIUVic (UVic-UCC)
  87. What Mutagenic Events Contribute to Human Cancer and Genetic Disease?
    Michael D. Waters · 2017 · John Wiley & Sons, Inc. eBooks
  88. Estimating the Y chromosome point mutation rate in extended patrilineal pedigrees
    Axel Wilhelm Einarsson · 2017
  89. Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review
    Zsolt Pádár, Petra Zenke, Zsolt Kozma · 2018 · InTech eBooks
  90. Investigating postzygotic de novo mutations and somatic mosaicism in monozygotic twins discordant for complex disorders
    Nirmal Vadgama · 2017 · UCL Discovery (University College London)
  91. Interpreting the dependence of mutation rates on age and time
    Ziyue Gao, Minyoung J. Wyman, Guy Sella, Molly Przeworski · 2015 · arXiv (Cornell University)
  92. Using Rare Genetic Variation to Understand Human Demography and the Etiology of Complex Traits.
    Mark Reppell · 2014 · Deep Blue (University of Michigan)
  93. Dominant and sporadic de novo disorders
    Claudia G. Gonzaga-Jauregui, Lauretta El Hayek, Maria H. Chahrour · 2021 · Elsevier eBooks
  94. Dating Methods: Genetic
    Simon Y. W. Ho, Phillip Endicott · 2020 · Springer eBooks
  95. Mutation
    Naruya Saitou · 2018 · Computational biology
  96. Recent Advances in Cardiovascular Development
    The Editors · 2013 · Circulation Research
  97. Faculty Opinions recommendation of Global analysis of mutations driving microevolution of a heterozygous diploid fungal pathogen.
    Kaustuv Sanyal, Krishnendu Guin · 2018 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  98. Dating Methods: Genetic
    Simon Y. W. Ho, Phillip Endicott · 2018 · Springer eBooks
  99. World of Reproductive Biology
    Charlotte Schubert · 2012 · Biology of Reproduction
  100. Harnessing New Genomics Technologies to Assess Environmental Risk Factors That May Cause Heritable Genetic Disease
    Marc A. Beal · 2017