Concepedia

Structural Variant Validation

Structural Variant Validation is a methodological process in genomics that confirms the presence and accuracy of structural variants identified in sequencing data through experimental or computational means, distinguishing it from initial variant detection by focusing on verification and error reduction.

15

Publications

853

Citations

164

Authors

52

Institutions

Publications per year

2017–2026

10

Parents

Publications

15

Samplot: a platform for structural variant visual validation and automated filtering

Jonathan R. Belyeu, Murad Chowdhury, Joseph Brown et al. · Genome biology · 2021 · 146 citations · Full text

, , +17

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson et al. · Genome Medicine · 2019 · 144 citations · Full text

, , +17

Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly

Kim Wong, Thomas Keane, James Stalker et al. · Genome biology · 2010 · 136 citations · Full text

, , +17

FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods

Timothy Becker, Wan‐Ping Lee, Joseph F. Leone et al. · Genome biology · 2018 · 81 citations · Full text

, , +17

Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

Wenbo Mu, Bing Li, Sitao Wu et al. · Genetics in Medicine · 2018 · 47 citations · Full text

, , +17

1–5 of 15

Authors

164

  1. RM
    Ryan M. Layer

    University of Utah, United States

    2 publications · 160 citations

    2

    h-index

  2. AR
    Aaron R. Quinlan

    University of Utah, United States

    2 publications · 160 citations

    2

    h-index

  3. BB
    Ben Busby

    National Center for Biotechnology Information, United States

    2 publications · 39 citations

    2

    h-index

  4. RE
    Ryan E. Mills

    University of Michigan, United States

    2 publications · 117 citations

    2

    h-index

  5. MC
    Murad Chowdhury

    University of Colorado Boulder, United States

    2 publications · 160 citations

    2

    h-index

1–5 of 164

Institutions

52

  1. National Center for Biotechnology Information

    Bethesda, United States

    3 h-index

    9 publications

    202 citations

  2. National Institutes of Health

    Bethesda, United States

    3 h-index

    11 publications

    241 citations

  3. Cleveland Clinic Lerner College of Medicine

    Cleveland, United States

    2 h-index

    2 publications

    39 citations

  4. Mansoura University

    Al Mansurah, Egypt

    2 h-index

    2 publications

    39 citations

  5. Innsbruck Medical University

    Innsbruck, Austria

    2 h-index

    2 publications

    39 citations

  6. University of Michigan

    Ann Arbor, United States

    2 h-index

    4 publications

    189 citations

  7. University of Colorado Boulder

    Boulder, United States

    2 h-index

    4 publications

    320 citations

  8. National Institute of Diabetes and Digestive and Kidney Diseases

    Bethesda, United States

    2 h-index

    2 publications

    39 citations

1–8 of 52

Venues

  1. Genome biology

    4 publications · 409 citations

    4

    h-index

  2. Bioinformatics

    2 publications · 51 citations

    2

    h-index

  3. F1000Research

    2 publications · 39 citations

    2

    h-index

  4. Genome Research

    GR · 1 publications · 44 citations

    1

    h-index

  5. GigaScience

    1 publications · 36 citations

    1

    h-index

1–5