Concepedia

Single Nucleotide Variant Classification

Single Nucleotide Variant Classification is a computational method in genomics that categorizes single nucleotide variants based on their biological impact, distinguishing it from other variant classification approaches by its exclusive focus on substitutions at individual nucleotide positions.

25

Publications

1.8K

Citations

169

Authors

86

Institutions

Publications per year

2017–2026

15

Parents

Publications

25

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Sean V. Tavtigian, Marc S. Greenblatt, Steven M. Harrison et al. · Genetics in Medicine · 2018 · 606 citations · Full text

, , +14

Biologically diverse molecular variants within a single HIV-1 isolate

Amanda G. Fisher, Barbara Ensoli, David J. Looney et al. · Nature · 1988 · 273 citations

, , +14

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

Vidhya Jagannathan, Cord Drögemüller, Tosso Leeb · Animal Genetics · 2019 · 193 citations · Full text

, , +17

A common single-nucleotide variant in T is strongly associated with chordoma

Nischalan Pillay, Vincent Plagnol, Patrick Tarpey et al. · Nature Genetics · 2012 · 131 citations

, , +8

Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs

Alexis Christoforides, John D. Carpten, Glen J. Weiss et al. · BMC Genomics · 2013 · 89 citations · Full text

, , +17

1–5 of 25

Authors

169

  1. CY
    Changhui Yan

    North Dakota State University, United States

    2 publications · 38 citations

    2

    h-index

  2. YH
    Yi‐Hsuan Huang

    National Taiwan University Hospital, Taiwan

    1 publications · 22 citations

    1

    h-index

  3. BO
    Brendan O’Fallon

    University of Utah, United States

    1 publications · 45 citations

    1

    h-index

  4. BH
    Beatrice H. Hahn

    University of Alabama at Birmingham, United States

    1 publications · 273 citations

    1

    h-index

  5. FS
    Fredrik Sterky

    KTH Royal Institute of Technology, Sweden

    1 publications · 18 citations

    1

    h-index

1–5 of 169

Institutions

86

  1. National Institutes of Health

    Bethesda, United States

    2 h-index

    6 publications

    2K citations

  2. Stanford University

    Stanford, United States

    2 h-index

    8 publications

    683 citations

  3. Harvard University

    Cambridge, United States

    2 h-index

    2 publications

    638 citations

  4. Utah State University

    Logan, United States

    2 h-index

    6 publications

    104 citations

  5. Umm al-Qura University

    Makkah al Mukarramah, Saudi Arabia

    1 h-index

    1 publications

    12 citations

  6. AlbaNova

    Stockholm, Sweden

    1 h-index

    3 publications

    54 citations

  7. Maladies Infectieuses et Vecteurs: Écologie, Génétique, Évolution et Contrôle

    Montpellier, France

    1 h-index

    1 publications

    23 citations

  8. Hôpital Arnaud de Villeneuve

    Montpellier, France

    1 h-index

    1 publications

    23 citations

1–8 of 86

Venues

  1. Frontiers in Molecular Biosciences

    1 publications · 36 citations

    1

    h-index

  2. Genome Research

    GR · 1 publications · 17 citations

    1

    h-index

  3. Nucleic Acids Research

    1 publications · 16 citations

    1

    h-index

  4. Heredity

    1 publications · 45 citations

    1

    h-index

  5. Econstor (Econstor)

    Repository · 1 publications · 12 citations

    1

    h-index

1–5