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Integrated genomic analysis identifies a genetic mutation model predicting response to immune checkpoint inhibitors in melanoma

Junjie Jiang, Yongfeng Ding, Mengjie Wu, Yanyan Chen, Xiadong Lyu, Jun Lu, Haiyong Wang, Lisong Teng

Cancer Med. 2020 Nov; 9(22): 8498–8518. Published online 2020 Sep 24. doi: 10.1002/cam4.3481

PMCID:: PMC7666739

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An enhanced genetic mutation-based model for predicting the efficacy of immune checkpoint inhibitors in patients with melanoma

Chaohu Pan, Hongzhen Tang, Wei Wang, Dongfang Wu, Haitao Luo, Libin Xu, Xue-Jia Lin

Front Oncol. 2022; 12: 1077477. Published online 2023 Jan 17. doi: 10.3389/fonc.2022.1077477

PMCID:: PMC9887306

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A modified fluctuation assay reveals a natural mutator phenotype that drives mutation spectrum variation within Saccharomyces cerevisiae

Pengyao Jiang, Anja R Ollodart, Vidha Sudhesh, Alan J Herr, Maitreya J Dunham, Kelley Harris

eLife. 2021; 10: e68285. Published online 2021 Sep 15. doi: 10.7554/eLife.68285

PMCID:: PMC8497059

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Genetic mutation profile of Chinese HER2-positive breast cancers and genetic predictors of responses to Neoadjuvant anti-HER2 therapy

Kai Li, Ning Liao, Bo Chen, Guochun Zhang, Yulei Wang, Liping Guo, Guangnan Wei, Minghan Jia, Lingzhu Wen, Chongyang Ren, Li Cao, Hsiaopei Mok, Cheukfai Li, Jiali Lin, Xiaoqing Chen, Zhou Zhang, Ting Hou, Min Li, Jing Liu, Charles M. Balch, Ning Liao

Breast Cancer Res Treat. 2020; 183(2): 321–332. Published online 2020 Jul 7. doi: 10.1007/s10549-020-05778-0

PMCID:: PMC7383038

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AD-Syn-Net: systematic identification of Alzheimer’s disease-associated mutation and co-mutation vulnerabilities via deep learning

Xingxin Pan, Zeynep H Coban Akdemir, Ruixuan Gao, Xiaoqian Jiang, Gloria M Sheynkman, Erxi Wu, Jason H Huang, Nidhi Sahni, S Stephen Yi

Brief Bioinform. 2023 Mar; 24(2): bbad030. Published online 2023 Feb 8. doi: 10.1093/bib/bbad030

PMCID:: PMC10025433

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Clinical Phenotype and Mutation Spectrum of Alzheimer’s Disease with Causative Genetic Mutation in a Chinese Cohort

Chenhui Mao, Jie Li, Liling Dong, Xinying Huang, Dan Lei, Jie Wang, Shanshan Chu, Caiyan Liu, Bin Peng, Gustavo C. Román, Liying Cui, Jing Gao

Curr Alzheimer Res. 2021 Aug 6; 18(3): 265–272. Published online 2021 Aug 6. doi: 10.2174/1567205018666210608120339

PMCID:: PMC8506917

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Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

Philip S. Robinson, Laura E. Thomas, Federico Abascal, Hyunchul Jung, Luke M. R. Harvey, Hannah D. West, Sigurgeir Olafsson, Bernard C. H. Lee, Tim H. H. Coorens, Henry Lee-Six, Laura Butlin, Nicola Lander, Rebekah Truscott, Mathijs A. Sanders, Stefanie V. Lensing, Simon J. A. Buczacki, Rogier ten Hoopen, Nicholas Coleman, Roxanne Brunton-Sim, Simon Rushbrook, Kourosh Saeb-Parsy, Fiona Lalloo, Peter J. Campbell, Iñigo Martincorena, Julian R. Sampson, Michael R. Stratton

Nat Commun. 2022; 13: 3949. Published online 2022 Jul 8. doi: 10.1038/s41467-022-31341-0

PMCID:: PMC9270427

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Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes

James J. Ashton, Enrico Mossotto, Imogen S. Stafford, Rachel Haggarty, Tracy A.F. Coelho, Akshay Batra, Nadeem A. Afzal, Matthew Mort, David Bunyan, Robert Mark Beattie, Sarah Ennis

Clin Transl Gastroenterol. 2020 Feb; 11(2): e00129. Published online 2020 Feb 18. doi: 10.14309/ctg.0000000000000129

PMCID:: PMC7145023

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Genetic Testing and Surgical Treatment after Breast Cancer Diagnosis: Results from a National Online Cohort

Francys C. Verdial, Matthew A. Bartek, Benjamin O. Anderson, Sara H. Javid

J Surg Oncol. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: J Surg Oncol. 2021 Jun; 123(7): 1504–1512. Published online 2021 Mar 18. doi: 10.1002/jso.26372

PMCID:: PMC8127342

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A new ferroptosis-related genetic mutation risk model predicts the prognosis of skin cutaneous melanoma

Jia He, Wenting Huang, Xinxin Li, Jingru Wang, Yaxing Nie, Guiqiang Li, Xiaoxiang Wang, Huili Cao, Xiaodong Chen, Xusheng Wang

Front Genet. 2022; 13: 988909. Published online 2023 Jan 5. doi: 10.3389/fgene.2022.988909

PMCID:: PMC9849373

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A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants

Divya C. Kernik, Pei-Chi Yang, Junko Kurokawa, Joseph C. Wu, Colleen E. Clancy

PLoS Comput Biol. 2020 Aug; 16(8): e1008109. Published online 2020 Aug 14. doi: 10.1371/journal.pcbi.1008109

PMCID:: PMC7449496

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Mutation bias and adaptation in bacteria

James S. Horton, Tiffany B. Taylor

Microbiology (Reading) 2023; 169(11): 001404. Published online 2023 Nov 9. doi: 10.1099/mic.0.001404

PMCID:: PMC10710837

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Gene mutation detection of urinary sediment cells for NMIBC early diagnose and prediction of NMIBC relapse after surgery

Feng Zhu, Yan Zhang, Lei Shi, Chun-lei Wu, Shuai-qi Chen, Hang Zheng, Dong-kui Song

Medicine (Baltimore) 2019 Aug; 98(32): e16451. Published online 2019 Aug 9. doi: 10.1097/MD.0000000000016451

PMCID:: PMC6709296

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NOTCH1 mutation associates with impaired immune response and decreased relapse-free survival in patients with resected T1-2N0 laryngeal cancer

Xiao-yang Gong, Hai-bin Chen, Li-qing Zhang, Dong-sheng Chen, Wang Li, Dong-hui Chen, Jin Xu, Han Zhou, Le-le Zhao, Yun-jie Song, Ming-zhe Xiao, Wang-long Deng, Chuang Qi, Xue-rong Wang, Xi Chen

Front Immunol. 2022; 13: 920253. Published online 2022 Jul 15. doi: 10.3389/fimmu.2022.920253

PMCID:: PMC9336464

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Genomic pan-cancer classification using image-based deep learning

Taoyu Ye, Sen Li, Yang Zhang

Comput Struct Biotechnol J. 2021; 19: 835–846. Published online 2021 Jan 15. doi: 10.1016/j.csbj.2021.01.010

PMCID:: PMC7848437

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Management of patients with BRCA mutation from the point of view of a breast surgeon

M.L. Riis

Ann Med Surg (Lond) 2021 May; 65: 102311. Published online 2021 Apr 16. doi: 10.1016/j.amsu.2021.102311

PMCID:: PMC8091883

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Reversion is most likely under high mutation supply when compensatory mutations do not fully restore fitness costs

Pleuni S Pennings, C Brandon Ogbunugafor, Ruth Hershberg

G3 (Bethesda) 2022 Sep; 12(9): jkac190. Published online 2022 Aug 3. doi: 10.1093/g3journal/jkac190

PMCID:: PMC9434179

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Dynamics of Adaptation During Three Years of Evolution Under Long-Term Stationary Phase

Sophia Katz, Sarit Avrani, Meitar Yavneh, Sabrin Hilau, Jonathan Gross, Ruth Hershberg

Mol Biol Evol. 2021 Jul; 38(7): 2778–2790. Published online 2021 Mar 18. doi: 10.1093/molbev/msab067

PMCID:: PMC8233507

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Epimutation of MMACHC compound to a genetic mutation in cblC cases

Xiaoman Zhang, Qiong Chen, Yinsen Song, Pengbo Guo, Yanhong Wang, Shuying Luo, Yaodong Zhang, Chongchen Zhou, Dongxiao Li, Yongxing Chen, Haiyan Wei

Mol Genet Genomic Med. 2021 Jun; 9(6): e1625. Published online 2021 May 12. doi: 10.1002/mgg3.1625

PMCID:: PMC8222841

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Mutation bias reflects natural selection in Arabidopsis thaliana

J. Grey Monroe, Thanvi Srikant, Pablo Carbonell-Bejerano, Claude Becker, Mariele Lensink, Moises Exposito-Alonso, Marie Klein, Julia Hildebrandt, Manuela Neumann, Daniel Kliebenstein, Mao-Lun Weng, Eric Imbert, Jon Ågren, Matthew T. Rutter, Charles B. Fenster, Detlef Weigel

Nature. 2022; 602(7895): 101–105. Published online 2022 Jan 12. doi: 10.1038/s41586-021-04269-6

Correction in:: Nature. 2023; 620(7973): E13.

PMCID:: PMC8810380

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PMC Images search for genetic mutation

Figure 5. N-queens accuracy and convergence results for constant and adaptive mutation rate genetic algorithms.

A. Graph of the N-queens problem accuracies among 0% constant mutation, 20% constant mutation, and adaptive mutation. ***p < 0.001. B. Graph of the N-queens problem convergences among 0% constant mutation, 20% constant mutation, and adaptive mutation. ***p < 0.001. mutation (mut.), adaptive (adapt.).

A novel pseudoderivative-based mutation operator for real-coded adaptive genetic algorithms

F1000Res. 2013;2:139.
Figure 6. 3D maximization accuracy and convergence results for constant and adaptive mutation rate genetic algorithms.

A. This is a graph of the 3D surface maximization problem accuracies among 0% constant mutation, 20% constant mutation, and adaptive mutation. B. This is a graph of the 3D surface maximization problem convergences among 20% constant mutation and adaptive mutation. 0% constant mutation was not statistically analyzed because convergence was not achieved. ***p < 0.001. mutation (mut.), adaptive (adapt.).

A novel pseudoderivative-based mutation operator for real-coded adaptive genetic algorithms

F1000Res. 2013;2:139.
Figure 1

Mutations in PCCA gene. (A) Presented in GenBank dbSNP mutation (c.802C>T) in PCCA-exon 10 detected by Genetic diagnosis panel. (B) Novel mutation (c.827delG) in PCCA-exon 13 detected by Genetic diagnosis panel. (C) Presented mutation (c.802C>T) in PCCA-exon 10 detected by Sanger sequencing. (D) Novel mutation (c.827delG) in PCCA-exon 13 detected by Sanger sequencing. The results show father carried c.827delG mutation, while mother carried c.802C>T mutation. Mutation position were marked with green arrow in (C,D).

A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel

Front Pediatr. 2018;6:233.
Figure 1

Genetic mutation frequency of selected genes for each ethnicity (green = low genetic mutation frequency; black = moderate genetic mutation frequency; dark red to light red = high to very high genetic mutation frequency)

Mutation Frequencies in Endometrial Cancer Patients of Different Ethnicities and Tumor Grades: An Analytical Study

Saudi J Med Med Sci. 2019 Jan-Apr;7(1):16-21.