Concepedia

Mutation Curation

Mutation Curation is a systematic academic process within mutation analysis that involves the identification, validation, classification, and annotation of genetic variants to ensure their accurate interpretation and integration into biological or clinical knowledge bases.

70

Publications

4.6K

Citations

427

Authors

256

Institutions

Publications per year

2017–2026

23

Parents

Publications

70

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

, , +12

Predicting the clinical impact of human mutation with deep neural networks

Laksshman Sundaram, Hong Gao, Samskruthi Reddy Padigepati et al. · Nature Genetics · 2018 · 531 citations · Full text

, , +16

The million mutation project: A new approach to genetics in <i>Caenorhabditis elegans</i>

Owen Thompson, Mark L. Edgley, Pnina Strasbourger et al. · Genome Research · 2013 · 473 citations · Full text

, , +16

Mutation Research/Reviews in Mutation Research

Richard G. Stevens · 2009 · 188 citations

, , +14

Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR® Yfiler® PCR amplification kit

Miriam Goedbloed, Mark Vermeulen, Rixun Fang et al. · International Journal of Legal Medicine · 2009 · 140 citations · Full text

, , +12

1–5 of 70

Authors

427

  1. RG
    Richard G.H. Cotton

    Royal Children's Hospital, Australia

    5 publications · 199 citations

    5

    h-index

  2. MV
    Mauno Vihinen

    5 publications · 221 citations

    5

    h-index

  3. OH
    Ourania Horaitis

    The University of Melbourne, Australia

    4 publications · 138 citations

    4

    h-index

  4. KE
    Kathryn E. Holt

    The University of Melbourne, Australia

    2 publications · 43 citations

    2

    h-index

  5. SM
    Serghei Mangul

    University of California, Los Angeles, United States

    2 publications · 95 citations

    2

    h-index

1–5 of 427

Institutions

256

  1. The University of Melbourne

    Melbourne, Australia

    6 h-index

    8 publications

    226 citations

  2. Wellcome Trust

    London, United Kingdom

    3 h-index

    4 publications

    118 citations

  3. The Royal Melbourne Hospital

    Melbourne, Australia

    3 h-index

    3 publications

    85 citations

  4. Tampere University Hospital

    Tampere, Finland

    3 h-index

    3 publications

    112 citations

  5. Tampere University of Applied Sciences

    Tampere, Finland

    3 h-index

    3 publications

    147 citations

  6. KU Leuven

    Leuven, Belgium

    3 h-index

    9 publications

    294 citations

  7. University College London

    London, United Kingdom

    3 h-index

    3 publications

    1K citations

  8. Charité - Universitätsmedizin Berlin

    Berlin, Germany

    3 h-index

    7 publications

    539 citations

1–8 of 256

Venues

  1. Human Mutation

    9 publications · 1.4K citations

    9

    h-index

  2. Nucleic Acids Research

    3 publications · 190 citations

    3

    h-index

  3. Clinical Biochemistry

    2 publications · 27 citations

    2

    h-index

  4. BMC Genomics

    2 publications · 91 citations

    2

    h-index

  5. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 2 publications · 35 citations

    2

    h-index

1–5