Distribution analysis of missense variants in the human genome reveals widespread gene-specific clustering patterns and improves prediction of pathogenicity

被引：0
|
作者：
Mathieu, Quinodoz [1 ,2 ,3 ]
Peter, Virginie [1 ,2 ,3 ,4 ]
Cisarova, Katarina [5 ,6 ]
Royer-Bertrand, Beryl [5 ,6 ]
Stenson, Peter D. [7 ]
Cooper, David N. [7 ]
Unger, Sheila [5 ,6 ]
Superti-Furga, Andrea [5 ,6 ]
Rivolta, Carlo [1 ,2 ,3 ]
机构：
[1] Inst Mol & Clin Ophthalmol Basel, Basel, Switzerland
[2] Univ Basel, Dept Ophthalmol, Basel, Switzerland
[3] Univ Leicester, Dept Genet & Genome Biol, Leicester, England
[4] Lausanne Univ Hosp CHUV, Inst Expt Pathol, Lausanne, Switzerland
[5] Univ Lausanne, Lausanne, Switzerland
[6] Lausanne Univ Hosp CHUV, Div Med Genet, Lausanne, Switzerland
[7] Cardiff Univ, Inst Med Genet, Cardiff, Wales
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
基金：
瑞士国家科学基金会;
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P18.004.D
引用
收藏
页码：598 / 599
页数：2
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  • [1] Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
    Quinodoz, Mathieu
    Peter, Virginie G.
    Cisarova, Katarina
    Royer-Bertrand, Beryl
    Stenson, Peter D.
    Cooper, David N.
    Unger, Sheila
    Superti-Furga, Andrea
    Rivolta, Carlo
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2022, 109 (03) : 457 - 470
  • [2] Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants
    Kang, Moonjong
    Kim, Seonhwa
    Lee, Da-Bin
    Hong, Changbum
    Hwang, Kyu-Baek
    [J]. SCIENTIFIC REPORTS, 2023, 13 (01)
  • [3] Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants
    Moonjong Kang
    Seonhwa Kim
    Da-Bin Lee
    Changbum Hong
    Kyu-Baek Hwang
    [J]. Scientific Reports, 13
  • [4] Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome
    Mohammed, Eman E. A.
    Fayez, Alaaeldin G.
    Abdelfattah, Nabil M.
    Fateen, Ekram
    [J]. SCIENTIFIC REPORTS, 2024, 14 (01):
  • [5] iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers
    Meng Wang
    Liping Wei
    [J]. Scientific Reports, 6
  • [6] iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers
    Wang, Meng
    Wei, Liping
    [J]. SCIENTIFIC REPORTS, 2016, 6
  • [7] Analysis of genetic variants through aggregation of homologous human protein domains via MetaDome strongly improves diagnostic prediction of missense variants
    Wiel, L.
    Baakman, C.
    Gilissen, D.
    Venselaar, H.
    Veltman, J. A.
    Vriend, G.
    Gilissen, C.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1157 - 1157
  • [8] Time Course Analysis Reveals Gene-Specific Transcript and Protein Kinetics of Adaptation to Short-Term Aerobic Exercise Training in Human Skeletal Muscle
    Egan, Brendan
    O'Connor, Paul L.
    Zierath, Juleen R.
    O'Gorman, Donal J.
    [J]. PLOS ONE, 2013, 8 (09):
  • [9] Genome-wide microRNA expression analysis in human placenta reveals sex-specific patterns: an ENVIRONAGE birth cohort study
    Tsamou, Maria
    Vrijens, Karen
    Wang, Congrong
    Winckelmans, Ellen
    Neven, Kristof Y.
    Madhloum, Narjes
    de Kok, Theo M.
    Nawrot, Tim S.
    [J]. EPIGENETICS, 2021, 16 (04) : 373 - 388
  • [10] Genome-wide transcriptome mapping analysis identifies organ-specific gene expression patterns along human chromosomes
    Yamashita, T
    Honda, M
    Takatori, H
    Nishino, R
    Hoshino, N
    Kaneko, S
    [J]. GENOMICS, 2004, 84 (05) : 867 - 875
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