Concepedia

Mutation Spectrum

Mutation Spectrum is a quantitative profile that characterizes the relative frequencies of different types of mutational events, such as base substitutions, insertions, and deletions, across a genome or genomic region, thereby distinguishing itself from other genomic measures by specifically reflecting the patterns and biases inherent in mutation processes.

1.3K

Publications

75.2K

Citations

9.6K

Authors

2.5K

Institutions

Publications per year

2017–2026

374

Variants

Mutational Spectrum

Parents

Publications

1.3K

Easy quantitative assessment of genome editing by sequence trace decomposition

Eva K. Brinkman, Tao Chen, Mario Amendola et al. · Nucleic Acids Research · 2014 · 2.6K citations · Full text

, , +13

The Rate and Molecular Spectrum of Spontaneous Mutations in <i>Arabidopsis thaliana</i>

Stephan Ossowski, Korbinian Schneeberger, José Ignacio Lucas‐Lledó et al. · Science · 2009 · 1.2K citations · Full text

, , +14

Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

Dominique Campion, Cécile Dumanchin, Didier Hannequin et al. · The American Journal of Human Genetics · 1999 · 788 citations · Full text

, , +16

A genome-wide view of the spectrum of spontaneous mutations in yeast

Michael Lynch, Way Sung, Krystalynne Morris et al. · Proceedings of the National Academy of Sciences · 2008 · 748 citations · Full text

, , +17

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 603 citations · Full text

, , +14

1–5 of 1.3K

Authors

9.6K

  1. XG
    Xiangming Guo

    Sun Yat-sen University, China

    12 publications · 427 citations

    12

    h-index

  2. SL
    Shiqiang Li

    Sun Yat-sen University, China

    12 publications · 427 citations

    12

    h-index

  3. TR
    Thomas Rosenberg

    Kennedy Center, Denmark

    10 publications · 561 citations

    10

    h-index

  4. XX
    Xueshan Xiao

    Sun Yat-sen University, China

    10 publications · 370 citations

    10

    h-index

  5. AH
    Annette Hervey

    New York Botanical Garden, United States

    9 publications · 750 citations

    9

    h-index

1–5 of 9.6K

Institutions

2.5K

  1. Inserm

    Paris, France

    33 h-index

    242 publications

    35.8K citations

  2. Chinese Academy of Medical Sciences & Peking Union Medical College

    Beijing, China

    21 h-index

    215 publications

    7.7K citations

  3. University College London

    London, United Kingdom

    21 h-index

    70 publications

    8.7K citations

  4. Centre National de la Recherche Scientifique

    Paris, France

    20 h-index

    115 publications

    7.9K citations

  5. Baylor College of Medicine

    Houston, United States

    19 h-index

    73 publications

    10.1K citations

  6. Central South University

    Changsha, China

    19 h-index

    158 publications

    4.5K citations

  7. Sun Yat-sen University

    Guangzhou, China

    19 h-index

    154 publications

    4.9K citations

  8. Columbia University

    New York, United States

    19 h-index

    54 publications

    3.2K citations

1–8 of 2.5K

Venues

  1. Human Mutation

    67 publications · 5.2K citations

    43

    h-index

  2. Proceedings of the National Academy of Sciences

    PNAS · 92 publications · 7.8K citations

    43

    h-index

  3. PubMed

    Repository · 66 publications · 3.7K citations

    33

    h-index

  4. Clinical Genetics

    39 publications · 2.3K citations

    27

    h-index

  5. PLoS ONE

    41 publications · 1.5K citations

    25

    h-index

1–5