Concepedia

Variant Reanalysis

Variant Reanalysis is the systematic reassessment of previously evaluated germline genetic variants using updated evidence, methodologies, or classification guidelines to refine variant interpretation and clinical significance.

26

Publications

1.4K

Citations

430

Authors

129

Institutions

Publications per year

2017–2026

21

Variants

Genetic Variant Reanalysis

Parents

Publications

26

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Caroline F. Wright, Jeremy F. McRae, Stephen Clayton et al. · Genetics in Medicine · 2018 · 341 citations · Full text

, , +17

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 197 citations · Full text

, , +17

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

Anne Rochtus, Heather E. Olson, Lacey Smith et al. · Epilepsia · 2020 · 128 citations · Full text

, , +17

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt et al. · Journal of Molecular Diagnostics · 2018 · 88 citations · Full text

, , +17

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

Pamela Fraser, Michael F. Gutzeit, Jeremy M. Harris et al. · Journal of Pediatric Genetics · 2016 · 83 citations · Full text

, , +17

1–5 of 26

Authors

430

  1. GM
    Gregory M. Cooper

    HudsonAlpha Institute for Biotechnology, United States

    2 publications · 92 citations

    2

    h-index

  2. WV
    Whitley V. Kelley

    HudsonAlpha Institute for Biotechnology, United States

    2 publications · 92 citations

    2

    h-index

  3. JM
    James M.J. Lawlor

    HudsonAlpha Institute for Biotechnology, United States

    2 publications · 92 citations

    2

    h-index

  4. SM
    Susan M. Hiatt

    HudsonAlpha Institute for Biotechnology, United States

    2 publications · 92 citations

    2

    h-index

  5. CR
    Candice R. Finnila

    HudsonAlpha Institute for Biotechnology, United States

    2 publications · 92 citations

    2

    h-index

1–5 of 430

Institutions

129

  1. HudsonAlpha Institute for Biotechnology

    Huntsville, United States

    3 h-index

    38 publications

    2K citations

  2. Harvard University

    Cambridge, United States

    3 h-index

    20 publications

    1.6K citations

  3. Boston Children's Hospital

    Boston, United States

    3 h-index

    29 publications

    2.8K citations

  4. Hospital Clínic de Barcelona

    Barcelona, Spain

    2 h-index

    8 publications

    228 citations

  5. Hospital Sant Joan de Déu Barcelona

    Barcelona, Spain

    2 h-index

    5 publications

    142 citations

  6. Ulsan College

    Ulsan, South Korea

    2 h-index

    9 publications

    222 citations

  7. Invitae (United States)

    San Francisco, United States

    2 h-index

    1 publications

    83 citations

  8. University of Ulsan

    Ulsan, South Korea

    2 h-index

    9 publications

    222 citations

1–8 of 129

Venues

  1. Genetics in Medicine

    GIM · 2 publications · 538 citations

    2

    h-index

  2. npj Genomic Medicine

    2 publications · 83 citations

    2

    h-index

  3. Journal of Molecular Diagnostics

    JMD · 2 publications · 117 citations

    2

    h-index

  4. Clinical Genetics

    2 publications · 71 citations

    2

    h-index

  5. Genome Research

    GR · 1 publications · 34 citations

    1

    h-index

1–5