The deleterious mutation load is insensitive to recent population history.

Cited by (279)

Items 101–200 of 279

1. The demographic history and mutational load of African hunter-gatherers and farmers
   Marie Lopez, Athanasios Kousathanas, Hélène Quach, Christine Harmant, Patrick Mouguiama-Daouda, Jean-Marie Hombert, Alain Froment, George H. Perry, Luis Bruno Barreiro, Paul Verdu et al. · 2018 · Nature Ecology & Evolution
2. Population genomics of the facultatively asexual duckweed Spirodela polyrhiza
   Eddie K. H. Ho, Magdalena P. Bartkowska, Stephen Wright, Aneil F. Agrawal · 2019 · New Phytologist
3. Selection and explosive growth alter genetic architecture and hamper the detection of causal rare variants
   Lawrence H. Uricchio, Noah Zaitlen, Chun Ye, John S. Witte, Ryan D. Hernandez · 2016 · Genome Research
4. Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants
   Xin Li, Alexis J. Battle, Konrad J. Karczewski, Zach Zappala, David A. Knowles, Kevin S. Smith, Kim Kukurba, Eric Wu, Noah Simon, Stephen B. Montgomery · 2014 · The American Journal of Human Genetics
5. Bioinformatically predicted deleterious mutations reveal complementation in the interior spruce hybrid complex
   Gina L. Conte, Kathryn A. Hodgins, Sam Yeaman, Jon C. Degner, Sally N. Aitken, Loren H. Rieseberg, Michael C. Whitlock · 2017 · BMC Genomics
6. Evolutionary History, Selective Sweeps, and Deleterious Variation in the Dog
   Freedman, Adam H., Lohmueller, Kirk E., Wayne, Robert K. · 2016 · Annual Review of Ecology, Evolution, and Systematics
7. Conservation management strategy impacts inbreeding and mutation load in scimitar-horned oryx
   Emily Humble, Martin A. Stoffel, Kara L. Dicks, Alex D. Ball, Rebecca M. Gooley, Justin Chuven, Ricardo Pusey, Mohammed Al Remeithi, Klaus‐Peter Koepfli, Budhan S. Pukazhenthi et al. · 2023 · Proceedings of the National Academy of Sciences
8. Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
   Lim, Elaine T., Würtz, Peter, Havulinna, Aki S., Palta, Priit, Tukiainen, Taru, Rehnström, Karola, Esko, Tõnu, Mägi, Reedik, Inouye, Michael, Lappalainen, Tuuli et al. · 2014 · PLoS Genetics
9. Deleterious Mutations Accumulate Faster in Allopolyploid Than Diploid Cotton ( Gossypium ) and Unequally between Subgenomes
   Justin L. Conover, Jonathan F. Wendel · 2022 · Molecular Biology and Evolution
10. Neanderthal introgression reintroduced functional ancestral alleles lost in Eurasian populations
    Rinker, David C., Simonti, Corinne N., McArthur, Evonne, Shaw, Douglas, Hodges, Emily, Capra, John A. · 2020 · Nature Ecology & Evolution
11. A Practical Guide to the Study of Distribution Limits
    Yvonne Willi, Josh Van Buskirk · 2019 · The American Naturalist
12. Whole-Genome Sequencing of Six Mauritian Cynomolgus Macaques (Macaca fascicularis) Reveals a Genome-Wide Pattern of Polymorphisms under Extreme Population Bottleneck
    Naoki Osada, Nilmini Hettiarachchi, Isaac A. Babarinde, Naruya Saitou, Antoine Blancher · 2015 · Genome Biology and Evolution
13. Demographic history shaped geographical patterns of deleterious mutation load in a broadly distributed Pacific Salmon
    Quentin Rougemont, Jean‐Sébastien Moore, Thibault Leroy, Éric Normandeau, Eric B. Rondeau, Ruth E. Withler, Donald M. Van Doornik, Penelope A. Crane, Kerry A. Naish, John Carlos Garza et al. · 2020 · PLoS Genetics
14. Evolutionary Perspectives on Genetic and Environmental Risk Factors for Psychiatric Disorders
    Matthew C. Keller · 2018 · Annual Review of Clinical Psychology
15. Comparative Genomics Approaches Accurately Predict Deleterious Variants in Plants
    Thomas J. Y. Kono, Lei Li, Ching-Hua Shih, Paul Hoffman, Peter Laurent Morrell, Justin C. Fay · 2018 · G3 Genes Genomes Genetics
16. Genetic surfing in human populations: from genes to genomes
    Stephan Peischl, Isabelle Dupanloup, Lars Bosshard, Laurent Excoffier · 2016 · Current Opinion in Genetics & Development
17. Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs
    Ipsita Agarwal, Zachary L. Fuller, Simon Myers, Molly Przeworski · 2023 · eLife
18. Evolutionary shaping of demographic schedules
    Kenneth W. Wachter, David Steinsaltz, Steven N. Evans · 2014 · Proceedings of the National Academy of Sciences
19. Genetic diversity in humans and non-human primates and its evolutionary consequences
    Naoki Osada · 2015 · Genes & Genetic Systems
20. Maintenance of Adaptive Dynamics and No Detectable Load in a Range-Edge Outcrossing Plant Population
    Margarita Takou, Tuomas Hämälä, Evan M Koch, Kim A. Steige, Hannes Dittberner, Levi J Yant, Mathieu Genête, Shamil R. Sunyaev, Vincent Castric, Xavier Vekemans et al. · 2021 · Molecular Biology and Evolution
21. Impact of range expansions on current human genomic diversity
    Vítor C. Sousa, Stephan Peischl, Laurent Excoffier · 2014 · Current Opinion in Genetics & Development
22. Living in an adaptive world: Genomic dissection of the genus Homo and its immune response
    Hélène Quach, Lluís Quintana‐Murci · 2017 · The Journal of Experimental Medicine
23. The impact of recombination on human mutation load and disease
    Isabel Alves, Armande Ang Houle, Julie Hussin, Philip Awadalla · 2017 · Philosophical Transactions of the Royal Society B Biological Sciences
24. The genetic architecture of temperature adaptation is shaped by population ancestry and not by selection regime
    Kathrin Anna Otte, Viola Nolte, François Mallard, Christian Schlötterer · 2021 · Genome biology
25. Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database
    Hall, Charlotte L, Sutanto, Henry, Dalageorgou, Chrysoula, McKenna, William John, Syrris, Petros, Futema, Marta · 2018 · European Journal of Human Genetics
26. Mutational load, inbreeding depression and heterosis in subdivided populations
    Brian Charlesworth · 2018 · Molecular Ecology
27. Genomic Underpinnings of Population Persistence in Isle Royale Moose
    Christopher C. Kyriazis, Annabel C. Beichman, Kristin E. Brzeski, Sarah R. Hoy, Rolf O. Peterson, John A. Vucetich, Leah M. Vucetich, Kirk E. Lohmueller, Robert K. Wayne · 2023 · Molecular Biology and Evolution
28. Implications of sex‐specific selection for the genetic basis of disease
    Edward H. Morrow, Tim Connallon · 2013 · Evolutionary Applications
29. The genomic footprint of whaling and isolation in fin whale populations
    Sergio F. Nigenda‐Morales, Meixi Lin, Paulina G. Nuñez-Valencia, Christopher C. Kyriazis, Annabel C. Beichman, Jacqueline A. Robinson, Aaron P. Ragsdale, Jorge Urbán R., Frederick I. Archer, Lorena Viloria Gómora et al. · 2023 · Nature Communications
30. Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?
    Vagheesh M. Narasimhan, Yali Xue, Chris Tyler‐Smith · 2016 · Trends in Molecular Medicine
31. Fitness Effects of Mutations: An Assessment of PROVEAN Predictions Using Mutation Accumulation Data
    Linnéa Sandell, Nathaniel P. Sharp · 2022 · Genome Biology and Evolution
32. Explosive genetic evidence for explosive human population growth
    Feng Gao, Alon Keinan · 2016 · Current Opinion in Genetics & Development
33. A Model of Compound Heterozygous, Loss-of-Function Alleles Is Broadly Consistent with Observations from Complex-Disease GWAS Datasets
    Jaleal S. Sanjak, Anthony D. Long, Kevin Thornton · 2017 · PLoS Genetics
34. Recent shifts in the genomic ancestry of Mexican Americans may alter the genetic architecture of biomedical traits
    Melissa L. Spear, Alex Diaz-Papkovich, Elad Ziv, Joseph Yracheta, Simon Gravel, Dara G. Torgerson, Ryan D. Hernandez · 2020 · eLife
35. Genomic analysis of family data reveals additional genetic effects on intelligence and personality
    William David Hill, Ruben C. Arslan, Charley Xia, Michelle Luciano A, Carmen Amador, Pau Navarro, Caroline Hayward, Réka Nagy, David John Porteous, Andrew Mark McIntosh et al. · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
36. Bottleneck‐associated changes in the genomic landscape of genetic diversity in wild lynx populations
    María Lucena-Pérez, Daniel Kleinman-Ruiz, Elena Marmesat, A. Saveljev, K. Schmidt, J. A. Godoy · 2021 · Evolutionary Applications
37. Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children
    Ari J. Silver, Jessica L. Larson, Maxwell J. Silver, Regine M. Lim, Carlos Borroto, Brett Spurrier, Anne Morriss, Lee M. Silver · 2016 · Genetic Testing and Molecular Biomarkers
38. Genomic conservation of crop wild relatives: A case study of citrus
    Nan Wang, Shuo Cao, Zhongjie Liu, Hua Xiao, Jianbing Hu, Xiaodong Xu, Peng Chen, Zhi‐Yao Ma, Junli Ye, Lijun Chai et al. · 2023 · PLoS Genetics
39. Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
    Konstantin Yu. Popadin, Stephan Peischl, Marco Garieri, M. Reza Sailani, Audrey Letourneau, Federico Andrea Santoni, Samuel W. Lukowski, Georgii A. Bazykin, Sergey I. Nikolaev, Diogo Meyer et al. · 2017 · Genome Research
40. Mutation saturation for fitness effects at human CpG sites
    Ipsita Agarwal, Molly Przeworski · 2021 · eLife
41. Genomic analyses reveal range‐wide devastation of sea otter populations
    Annabel C. Beichman, Pooneh Kalhori, Christopher C. Kyriazis, Amber A DeVries, Sergio F. Nigenda‐Morales, Gisela Heckel, Yolanda Schramm, Andrés Moreno‐Estrada, Douglas J. Kennett, Mark G. Hylkema et al. · 2021 · Molecular Ecology
42. Genetics of Type 2 Diabetes: the Power of Isolated Populations
    Mette Korre Andersen, Casper‐Emil Tingskov Pedersen, Ida Moltke, Torben F. Hansen, Anders Albrechtsen, Niels Grarup · 2016 · Current Diabetes Reports
43. The interplay of demography and selection during maize domestication and expansion
    Li Wang, Timothy M. Beissinger, Anne Lorant, Claudia Ross-Ibarra, Jeffrey Ross‐Ibarra, Matthew B. Hufford · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
44. Demographic history and genomic consequences of 10,000 generations of isolation in a wild mammal
    Xuejing Wang, Stephan Peischl, Gerald Heckel · 2023 · Current Biology
45. Increased homozygosity due to endogamy results in fitness consequences in a human population
    Natalie Swinford, Sean P. Prall, Shyamalika Gopalan, C. M. Williams, Jacob Sheehama, Brooke A. Scelza, Brenna M. Henn · 2023 · Proceedings of the National Academy of Sciences
46. On the decidability of population size histories from finite allele frequency spectra
    Soheil Baharian, Simon Gravel · 2018 · Theoretical Population Biology
47. Elevated rates of positive selection drive the evolution of pestiferousness in the Colorado potato beetle ( Leptinotarsa decemlineata , Say)
    Zachary Cohen, Kristian A. Brevik, Yolanda H. Chen, David J. Hawthorne, Benjamin D. Weibel, Sean D. Schoville · 2020 · Molecular Ecology
48. Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes
    Iria Roca, Ana Fernández Marmiesse, Sofía Gouveia, Marta Segovia, María Luz Couce · 2018 · International Journal of Molecular Sciences
49. Genetic Variation in Pan Species Is Shaped by Demographic History and Harbors Lineage-Specific Functions
    Sojung Han, Aida M. Andrés, Tomàs Marquès‐Bonet, Martin Kuhlwilm · 2019 · Genome Biology and Evolution
50. PGG.Population: a database for understanding the genomic diversity and genetic ancestry of human populations
    Chao Zhang, Yang Gao, Jiaojiao Liu, Zhe Xue, Yan Lü, Lian Deng, Lei Tian, Qidi Feng, Shuhua Xu · 2017 · Nucleic Acids Research
51. Exact Calculation of the Joint Allele Frequency Spectrum for Isolation with Migration Models
    Andrew D. Kern, Jody Hey · 2017 · Genetics
52. Population genetics-informed meta-analysis in seven genes associated with risk to dengue fever disease
    Marisa Oliveira, Diana P. Saraiva, Bruno Cavadas, Verónica Fernandes, Nicole Pedro, Isabelle Casadémont, Fanny Koeth, Farida Alshamali, Nourdin Harich, Lotfi Cherni et al. · 2018 · Infection Genetics and Evolution
53. Correction: Demographic history shaped geographical patterns of deleterious mutation load in a broadly distributed Pacific Salmon
    Quentin Rougemont, Jean‐Sébastien Moore, Thibault Leroy, Éric Normandeau, Eric B. Rondeau, Ruth E. Withler, Donald M. Van Doornik, Penelope A. Crane, Kerry A. Naish, John Carlos Garza et al. · 2021 · PLoS Genetics
54. The Genetic Architecture of Neurodevelopmental Disorders
    Kevin J. Mitchell · 2015 · Wiley eBooks
55. Between but Not Within-Species Variation in the Distribution of Fitness Effects
    Jennifer James, Chedly Kastally, Katharina B. Budde, Santiago C. González‐Martínez, Pascal Milesi, Tanja Pyhäjärvi, Martin Lascoux, Paraskevi G. Alizoti, Ricardo Alı́a, Olivier Ambrosio et al. · 2023 · Molecular Biology and Evolution
56. A General Model of the Relationship between the Apportionment of Human Genetic Diversity and the Apportionment of Human Phenotypic Diversity
    Edge, Rosenberg · 2015 · Human Biology
57. Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales
    Wanjun Gu, Christopher I. Gurguis, Jin J. Zhou, Yihua Zhu, Eun-A Ko, Jae‐Hong Ko, Ting Wang, Tong Zhou · 2015 · Genome Biology and Evolution
58. Not out of the woods yet: Signatures of the prolonged negative genetic consequences of a population bottleneck in a rapidly re‐expanding wader, the black‐faced spoonbill Platalea minor
    Shou‐Hsien Li, Yang Liu, Chia‐Fen Yeh, Yuchen Fu, Carol K. L. Yeung, Chun‐Cheng Lee, Chi‐Cheng Chiu, Tung Hui Kuo, Fang‐Tse Chan, Yu‐Chia Chen et al. · 2021 · Molecular Ecology
59. A quantitative genetic model of background selection in humans
    Vince Buffalo, Andrew D. Kern · 2024 · PLoS Genetics
60. Europeans have a higher proportion of high-frequency deleterious variants than Africans
    Sankar Subramanian · 2015 · Human Genetics
61. The Counteracting Effects of Demography on Functional Genomic Variation: The Roma Paradigm
    Neus Font‐Porterias, Rocio Caro-Consuegra, Marcel Lucas-Sánchez, Marie Lopez, Aaron Giménez, Annabel Carballo-Mesa, Elena Bosch, Francesc Calafell, Lluís Quintana‐Murci, David Comas · 2021 · Molecular Biology and Evolution
62. The distribution of fitness effects in an uncertain world
    Tim Connallon, Andrew G. Clark · 2015 · Evolution
63. Mutational load and adaptive variation are shaped by climate and species range dynamics in Vitis arizonica
    Christopher J. Fiscus, Jonás A. Aguirre‐Liguori, Garren R. J. Gaut, Brandon S. Gaut · 2025 · New Phytologist
64. The roles of hybridization and habitat fragmentation in the evolution of Brazil’s enigmatic longwing butterflies, Heliconius nattereri and H. hermathena
    Darli Massardo, Nicholas W. VanKuren, Sumitha Nallu, Renato Rogner Ramos, Pedro G. Ribeiro, Karina Lucas Silva‐Brandão, Marcelo Mendes Brandão, Marília Bruzzi Lion, André Victor Lucci Freitas, Márcio Zikán Cardoso et al. · 2020 · BMC Biology
65. A Temporal Perspective on the Interplay of Demography and Selection on Deleterious Variation in Humans
    Evan M Koch, John Novembre · 2017 · G3 Genes Genomes Genetics
66. Population Genetic Simulations of Complex Phenotypes with Implications for Rare Variant Association Tests
    Lawrence H. Uricchio, Raul Torres, John S. Witte, Ryan D. Hernandez · 2014 · Genetic Epidemiology
67. Direct Evidence of an Increasing Mutational Load in Humans
    Stéphane Aris‐Brosou · 2019 · Molecular Biology and Evolution
68. Domestication reshaped the genetic basis of inbreeding depression in a maize landrace compared to its wild relative, teosinte
    Luis Fernando Samayoa, Bode A. Olukolu, Chin Jian Yang, Qiuyue Chen, Markus G Stetter, Alessandra M. York, José de Jesús Sánchez González, Jeffrey C. Glaubitz, Peter J. Bradbury, M. Cinta Romay et al. · 2021 · PLoS Genetics
69. Genome sequencing of adapted diploid potato clones
    Sai Reddy Achakkagari, Maria Kyriakidou, Kyle M. Gardner, David L. De Koeyer, Hielke De Jong, Martina V. Strömvik, Helen H. Tai · 2022 · Frontiers in Plant Science
70. Implications of Population History of European Romani on Genetic Susceptibility to Disease
    Isabel Mendizabal, Óscar Lao, Urko M. Marigorta, Manfred Kayser, David Comas · 2013 · Human Heredity
71. Demography and linked selection interact to shape the genomic landscape of codistributed woodpeckers during the Ice Age
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72. Allele surfing causes maladaptation in a Pacific salmon of conservation concern
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73. Exploring rare and low-frequency variants in the Saguenay–Lac-Saint-Jean population identified genes associated with asthma and allergy traits
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74. Caution, Overload: The Troubled Past of Genetic Load
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75. Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations
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76. Accessible, Realistic Genome Simulation with Selection Using stdpopsim
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77. Complex trait architecture: the pleiotropic model revisited
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78. Patterns of variation in cis-regulatory regions: examining evidence of purifying selection
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79. Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation
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80. Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
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81. Ultra-rare variants drive substantial cis -heritability of human gene expression
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82. Constraining models of dominance for nonsynonymous mutations in the human genome
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83. Relaxed selection during a recent human expansion
    Stephan Peischl, Isabelle Dupanloup, Adrien Foucal, Michèle Jomphe, Vanessa Bruat, Jean‐Christophe Grenier, Alexandre Gouy, Elias Gbeha, Lars Bosshard, Elodie Hip-Ki et al. · 2016 · bioRxiv (Cold Spring Harbor Laboratory)
84. Neanderthal introgression reintroduced functional alleles lost in the human out of Africa bottleneck
    David C. Rinker, Corinne Simonti, Evonne McArthur, Douglas M. Shaw, Emily C. Hodges, John A. Capra · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
85. Stabilizing selection generates selection against introgressed DNA
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86. Populations, Traits, and Their Spatial Structure in Humans
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87. Phased genome assemblies reveal haplotype‐specific genetic load in the critically endangered Chinese Bahaba (Teleostei, Sciaenidae)
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88. Whole-genome sequencing analysis of wild house mice (Mus musculus) captured in Madagascar
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89. The distribution of highly deleterious variants across human ancestry groups
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90. Population genetic simulation study of power in association testing across genetic architectures and study designs
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91. Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
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92. Mutation–selection–drift balance models of complex diseases
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93. The impact of genetic modifiers on variation in germline mutation rates within and among human populations
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94. The role of climate and out-of-Africa migration in the frequencies of risk alleles for 21 human diseases
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95. The spatial Muller’s ratchet: Surfing of deleterious mutations during range expansion
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96. Evolution and Adaptation in the Maize Genome
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97. Accumulation of deleterious mutations during bacterial range expansions
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98. Comparative genomics approaches accurately predict deleterious variants in plants
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99. Functional prediction and frequency of coding variants in human ACE2 at binding sites with SARS‐CoV‐2 spike protein on different populations
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100. Enrichment for Northern European-derived multiple sclerosis risk alleles in Sardinia
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