Concepedia

Variant Quality Scoring

Variant Quality Scoring is a computational metric that quantifies the confidence level of a detected genetic variant by estimating the probability of the variant call being correct versus resulting from sequencing or alignment artifacts.

15

Publications

1.2K

Citations

89

Authors

41

Institutions

Publications per year

2017–2026

4

Parents

Publications

15

Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software

Daniel Cameron, Leon Di Stefano, Anthony T. Papenfuss · Nature Communications · 2019 · 387 citations · Full text

, , +17

Quality scores and SNP detection in sequencing-by-synthesis systems

William W. Brockman, Pablo Álvarez, Sarah Young et al. · Genome Research · 2008 · 269 citations · Full text

, , +17

Accounting for Bias from Sequencing Error in Population Genetic Estimates

Philip L. Johnson, Montgomery Slatkin · Molecular Biology and Evolution · 2007 · 94 citations · Full text

, , +16

Effect of lossy compression of quality scores on variant calling

Idoia Ochoa, Mikel Hernáez, Rachel L. Goldfeder et al. · Briefings in Bioinformatics · 2016 · 67 citations · Full text

, , +17

Evaluation of variant identification methods for whole genome sequencing data in dairy cattle

Christine F. Baes, Marlies Dolezal, James E. Koltes et al. · BMC Genomics · 2014 · 60 citations · Full text

, , +17

1–5 of 15

Authors

89

  1. TW
    Tsachy Weissman

    Stanford University, United States

    3 publications · 91 citations

    3

    h-index

  2. IO
    Idoia Ochoa

    Stanford University, United States

    3 publications · 91 citations

    3

    h-index

  3. MH
    Mikel Hernáez

    Universidad de Navarra, Spain

    3 publications · 91 citations

    3

    h-index

  4. RL
    Rachel L. Goldfeder

    Stanford University, United States

    2 publications · 77 citations

    2

    h-index

  5. EA
    Euan A. Ashley

    Stanford University, United States

    2 publications · 77 citations

    2

    h-index

1–5 of 89

Institutions

41

  1. Stanford University

    Stanford, United States

    3 h-index

    10 publications

    397 citations

  2. SIB Swiss Institute of Bioinformatics

    Lausanne, Switzerland

    1 h-index

    3 publications

    168 citations

  3. Soongsil University

    Seoul, South Korea

    1 h-index

    1 publications

    21 citations

  4. KU Leuven

    Leuven, Belgium

    1 h-index

    2 publications

    60 citations

  5. Peter MacCallum Cancer Centre

    Melbourne, Australia

    1 h-index

    1 publications

    387 citations

  6. Bern University of Applied Sciences

    Bern, Switzerland

    1 h-index

    3 publications

    180 citations

  7. Technical University of Munich

    Munich, Germany

    1 h-index

    2 publications

    120 citations

  8. University Hospital of Lausanne

    Lausanne, Switzerland

    1 h-index

    3 publications

    168 citations

1–8 of 41

Venues

  1. BMC Genomics

    1 publications · 60 citations

    1

    h-index

  2. Journal of Molecular Diagnostics

    JMD · 1 publications · 21 citations

    1

    h-index

  3. Molecular Biology and Evolution

    MBE · 1 publications · 94 citations

    1

    h-index

  4. Clinical Chemistry

    1 publications · 39 citations

    1

    h-index

  5. Briefings in Bioinformatics

    1 publications · 67 citations

    1

    h-index

1–5