Variation in genome-wide mutation rates within and between human families

Cited by (584)

Items 501–584 of 584

1. Epilogue
   Dick Neal · 2018 · Cambridge University Press eBooks
2. Faculty Opinions recommendation of Rate of de novo mutations and the importance of father's age to disease risk.
   Rosemary K. Clyne · 2012 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
3. Predator–Prey Interactions
   Dick Neal · 2018 · Cambridge University Press eBooks
4. Glossary
   Dick Neal · 2018 · Cambridge University Press eBooks
5. Haploid and Zygotic Selection
   Dick Neal · 2018 · Cambridge University Press eBooks
6. Preface
   Dick Neal · 2018 · Cambridge University Press eBooks
7. Population Genetics: Summary and Synthesis
   Dick Neal · 2018 · Cambridge University Press eBooks
8. Applying Zygotic Selection Models to Natural Systems
   Dick Neal · 2018 · Cambridge University Press eBooks
9. Species Interactions and Community Structure
   Dick Neal · 2018 · Cambridge University Press eBooks
10. Understanding Natural Selection
    Dick Neal · 2018 · Cambridge University Press eBooks
11. Life Tables
    Dick Neal · 2018 · Cambridge University Press eBooks
12. Human Genome
    Naruya Saitou · 2018 · Computational biology
13. Inbreeding
    Dick Neal · 2018 · Cambridge University Press eBooks
14. Animal Behaviour, Altruism and Limiting Aggression
    Dick Neal · 2018 · Cambridge University Press eBooks
15. Logistic Growth
    Dick Neal · 2018 · Cambridge University Press eBooks
16. Sexual Selection and Mating Systems
    Dick Neal · 2018 · Cambridge University Press eBooks
17. Exponential Growth
    Dick Neal · 2018 · Cambridge University Press eBooks
18. Growth of Age-Structured and Stage-Structured Populations
    Dick Neal · 2018 · Cambridge University Press eBooks
19. Polygenic Inheritance and Quantitative Genetics
    Dick Neal · 2018 · Cambridge University Press eBooks
20. Darwin’s Evolutionary Theories
    Dick Neal · 2018 · Cambridge University Press eBooks
21. Migration, Gene Flow and Differentiation of Populations
    Dick Neal · 2018 · Cambridge University Press eBooks
22. References
    2019 · Wiley eBooks
23. Interspecific Competition
    Dick Neal · 2018 · Cambridge University Press eBooks
24. Structural variants in the bovine genome
    Young-Lim Lee · 2022
25. The Concept of Immunogenetics
    Fateme Rajabi, Navid Jabalameli, Nima Rezaei · 2022 · Advances in experimental medicine and biology
26. Replikation, Reparatur und Rekombination von DNA
    2017 · Wiley-VCH eBooks
27. Mutation
    Naruya Saitou · 2018 · Computational biology
28. Mutation Rate and Spectrum
    Charles F. Baer · 2021
29. Mutation
    Naruya Saitou · 2013 · Computational biology
30. Mutation and the Genetic Variation of Populations
    Dick Neal · 2018 · Cambridge University Press eBooks
31. Mutation Rates
    Alexey S. Kondrashov · 2017
32. EMBnet.journal 19 Suppl. A
    EMBnet journal · 2013 · EMBnet journal
33. Faculty Opinions recommendation of Inherited and de novo genetic risk for autism impacts shared networks.
    Fowzan Sami Alkuraya · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
34. Genome Chaos: Bibliography
    2019 · Genome Chaos
35. Harnessing New Genomics Technologies to Assess Environmental Risk Factors That May Cause Heritable Genetic Disease
    Marc A. Beal · 2017
36. Index
    Dick Neal · 2018 · Cambridge University Press eBooks
37. Faculty Opinions recommendation of Inherited and de novo genetic risk for autism impacts shared networks.
    R. Frank Kooy · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
38. Human Genome
    Naruya Saitou · 2013 · Computational biology
39. [Exploring the association between de novo mutations and non-syndromic cleft lip with or without palate based on whole exome sequencing of case-parent trios].
    Xin Chen, S Y Wang, E C Xue, Xiaochen Wang, Hexiang Peng, M Fan, M Y Wang, Yiqun Wu, X Y Qin, Junsheng Li et al. · 2022 · PubMed Central
40. Behavioral Circuit-Specific Effects of Brain X-Chromosome Inactivation Determines X-Linked Phenotypic Penetrance
    Eric R Szelenyi, Danielle Fisenne, Joseph E. Knox, Julie A. Harris, James Gornet, Ramesh Palaniswamy, Yongsoo Kim, Kannan Umadevi Venkataraju, Pavel Osten · 2022 · SSRN Electronic Journal
41. Extensive variation in germline de novo mutations in Poecilia reticulata
    Yuying Lin, Iulia Darolti, Wouter van der Bijl, Jake Morris, Judith E. Mank · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
42. Additional file 1 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
    Bo Yuan, Katharina Schulze, Nurit Assia Batzir, Jefferson C. Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin‐To Fong, Jimmy Lloyd Holder, Joanne Nguyen et al. · 2022 · Figshare
43. The Evolutionary History of Baleen Whales in The Genome Era
    Fabrício Furni · 2024
44. A modeling of complex trait phenotypic variance determinants
    Shobbir Hussain · 2024 · PNAS Nexus
45. Negative selection on baboon admixture is strongest on chromosome X
    Erik F. Sørensen, Garrett Hellenthal, Kasper Munch · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
46. Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios
    Kelsey R. Robinson, Sarah W. Curtis, Justin E. Paschall, Terri H. Beaty, Azeez Butali, Carmen J. Buxó, David J. Cutler, Michael P. Epstein, Jacqueline T. Hecht, Lina M. Moreno Uribe et al. · 2025 · medRxiv
47. Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans
    Sarah W. Curtis, Cinderella Yang, Alba Sanchis‐Juan, Katherine Singleton, Terri H. Beaty, Florian Erger, Michael P. Epstein, Eleanor Feingold, Max Krause, Lina M. Moreno Uribe et al. · 2025 · Human Molecular Genetics
48. Systematic evaluation of de novo mutation calling tools using whole genome sequencing data
    Anushi Shah, Steven Monger, Michael Troup, Eddie Ip, Eleni Giannoulatou · 2025 · Briefings in Bioinformatics
49. Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion
    Camilla S. Teng, Sarah W. Curtis, Grace C. Brewer, Elizabeth J. Leslie, Jeffrey Ohmann Bush · 2025 · The Journal of Cell Biology
50. A deep learning framework for building INDEL mutation rate maps
    Shuyi Deng, Hui Song, Cai Li · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
51. Bibliography
    2025 · Elsevier eBooks
52. Genetic and functional characterization of candidate genes for complex psychiatric diseases using next-generation sequencing and cellular uptake assays
    Carina Quast · 2014 · Electronic Theses of LMU Munich (Ludwig-Maximilians-Universität München)
53. Additional file 3 of Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
    Mónica Lopes‐Marques, Matthew E. Mort, Carneiro, João, Azevedo, António, Andreia P. Amaro, D.N. Cooper, Azevedo, Luísa · 2024 · Figshare
54. Additional file 2 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
    Yuan, Bo, Katharina Schulze, Assia Batzir, Nurit, Jefferson C. Sinson, Hongzheng Dai, Zhu, Wenmiao, Francia Bocanegra, ChinTo Fong, Holder, Jimmy, Nguyen, Joanne et al. · 2022 · Figshare
55. Additional file 1 of Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
    Mónica Lopes‐Marques, Matthew E. Mort, Carneiro, João, Azevedo, António, Andreia P. Amaro, D.N. Cooper, Azevedo, Luísa · 2024 · Figshare
56. Additional file 5 of Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
    Luyao Ren, Xiaoke Duan, Dong, Lianhua, Rui Zhang, Yang, Jingcheng, Yuechen Gao, Peng, Rongxue, Wanwan Hou, Liu, Yaqing, Li, Jingjing et al. · 2024 · Figshare
57. Additional file 3 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
    Yuan, Bo, Katharina Schulze, Assia Batzir, Nurit, Jefferson C. Sinson, Hongzheng Dai, Zhu, Wenmiao, Francia Bocanegra, ChinTo Fong, Holder, Jimmy, Nguyen, Joanne et al. · 2022 · Figshare
58. Additional file 4 of Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
    Mónica Lopes‐Marques, Matthew E. Mort, Carneiro, João, Azevedo, António, Andreia P. Amaro, D.N. Cooper, Azevedo, Luísa · 2024 · Figshare
59. Additional file 6 of Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
    Luyao Ren, Xiaoke Duan, Dong, Lianhua, Rui Zhang, Yang, Jingcheng, Yuechen Gao, Peng, Rongxue, Hou, Wanwan, Liu, Yaqing, Li, Jingjing et al. · 2024 · Figshare
60. Additional file 4 of Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
    Luyao Ren, Xiaoke Duan, Dong, Lianhua, Rui Zhang, Yang, Jingcheng, Yuechen Gao, Peng, Rongxue, Wanwan Hou, Liu, Yaqing, Li, Jingjing et al. · 2024 · Figshare
61. Genetic control of local mutation rates.
    Madison Caballero, A. Koren · 2026 · Proceedings of the National Academy of Sciences of the United States of America
62. Additional file 1 of Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines
    Stephan Weißbach, Stanislav Sys, Charlotte Hewel, Todorov, Hristo, Schweiger, Susann, Jennifer Winter, Pfenninger, Markus, Torkamani, Ali, Doug Evans, Burger, Joachim et al. · 2021 · Figshare
63. Additional file 3 of Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
    Luyao Ren, Xiaoke Duan, Dong, Lianhua, Rui Zhang, Yang, Jingcheng, Yuechen Gao, Peng, Rongxue, Wanwan Hou, Liu, Yaqing, Li, Jingjing et al. · 2024 · Figshare
64. Additional file 1 of Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
    Luyao Ren, Xiaoke Duan, Dong, Lianhua, Zhang, Rui, Yang, Jingcheng, Yuechen Gao, Peng, Rongxue, Wanwan Hou, Liu, Yaqing, Li, Jingjing et al. · 2024 · Figshare
65. Additional file 7 of Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
    Luyao Ren, Xiaoke Duan, Dong, Lianhua, Rui Zhang, Yang, Jingcheng, Yuechen Gao, Peng, Rongxue, Wanwan Hou, Liu, Yaqing, Li, Jingjing et al. · 2024 · Figshare
66. Additional file 2 of The unusual gene architecture of polyubiquitin is created by dual-specific splice sites
    Duan, Chaorui, Truman Mooney, Luke Buerer, Cory Bowers, Stephen Rong, Kim, Seong Won, Alger M. Fredericks, Sean F. Monaghan, William Guy Fairbrother · 2024 · Figshare
67. Additional file 1 of The unusual gene architecture of polyubiquitin is created by dual-specific splice sites
    Duan, Chaorui, Truman Mooney, Luke Buerer, Cory Bowers, Stephen Rong, Kim, Seong Won, Alger M. Fredericks, Sean F. Monaghan, William Guy Fairbrother · 2024 · Figshare
68. Additional file 2 of Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
    Mónica Lopes‐Marques, Matthew E. Mort, Carneiro, João, Azevedo, António, Andreia P. Amaro, D.N. Cooper, Azevedo, Luísa · 2024 · Figshare
69. Additional file 2 of Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance
    Luyao Ren, Xiaoke Duan, Lianhua Dong, Rui Zhang, Yang, Jingcheng, Yuechen Gao, Peng, Rongxue, Wanwan Hou, Liu, Yaqing, Li, Jingjing et al. · 2024 · Figshare
70. Leveraging large family analyses for more accurate de novo mutation detection
    Maher Alnajjar, Endre Barta · 2026 · Biologia Futura
71. Recherche de nouveaux déterminants génétiques et épigénétiques de susceptibilité à la tumorigenèse intestinale au moyen du modèle murin Apcd14
    Stanislas Quesada · 2013 · theses.fr (ABES)
72. Extensions du modèle standard neutre pertinentes pour l'analyse de la diversité génétique
    Marguerite Lapierre · 2017 · theses.fr (ABES)
73. La dérive génétique : un outil pour identifier de nouveaux facteurs impliqués dans la pathogénie des maladies complexes tel le diabète auto-immune de la souris non obèse diabétique
    Anne‐Perrine Foray · 2019
74. MuRaL-indel: a deep learning framework for building insertion and deletion mutation rate maps
    Shuyi Deng, Hui Song, Cai Li · 2026 · Briefings in Bioinformatics
75. Heritability: Genes × Environment
    Franklin Sunzeri · 2026 · Springer eBooks
76. TriosCompass: a snakemake workflow for integrated detection of SNVs, indels, STRs, and structural de novo variants in parent–child trios
    Wei Zhu, Meredith Yeager, Eric T. Dawson, Komal Jain, Belynda D. Hicks, Michael C. Dean, Stephen Jacob Chanock, Wendy S W Wong · 2026 · Bioinformatics
77. Census and genetic analysis of the United States marmoset population
    Murillo F. Rodrigues, Philberta Leung, Jamie A. Ivy, Alexandra M. Stendahl, Karina Ray, Jenna Castro, Samuel M. Peterson, Ricardo C.H. del Rosario, Simon Ploesch, Joanna Malukiewicz et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
78. Improved discovery of de novo mutations using TrioDNM and VRFS
    Petr Danecek, Eugene J. Gardner, Joanna Kaplanis, Matthew E. Hurles, Sarah Lindsay · 2026 · GigaScience
79. Measuring the change in deleterious mutation burden of barley germplasm conserved over one regeneration cycle
    Yong‐Bi Fu · 2026 · G3 Genes Genomes Genetics
80. Phenotype-informed trio analysis reveals a multi-layered fetal genomic architecture in preterm birth
    Svetlana Dauengauer‐Kirlienė, Laura Pranckėnienė, Austėja Letukienė, Faustas Puzeras, Ingrida Domarkienė, Alina Urnikytė · 2026 · Research Square
81. Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction
    Sandra Ramos, Francesco Marchetti · 2026 · Archives of Toxicology
82. Cell cycle arrest of a craniofacial epithelial population shapes faces in mice and humans
    T. Qu, L. Faure, Rocío Hernández-Martínez, B.H. Chacón, Marta Losa, K. Robinson, A. Jones, Steven Lisgo, V. Hermosilla-Aguayo, V. Laub et al. · 2026 · Developmental Cell
83. Data from: How old are you? Genet age estimates in a clonal animal
    Meghann K Devlin-Durante, Margaret W. Miller, Caribbean Acropora Research Group, William F. Precht, Iliana B. Baums · 2016 · Data Archiving and Networked Services (DANS)
84. Auswirkungen von räumlichem Populationswachstum auf die genetische Vielfalt
    Sven Boekhoff · 2015