Concepedia

Variant Reinterpretation

Variant Reinterpretation is a scholarly contribution that reanalyzes or reevaluates an existing genetic or genomic variant’s functional or clinical significance by applying new evidence, criteria, or frameworks, thereby distinguishing it from initial variant interpretation through updated contextualization within the same variant classification paradigm.

13

Publications

425

Citations

111

Authors

58

Institutions

Publications per year

2017–2026

13

Parents

Publications

13

Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms

Danya F. Vears, Emilia Niemiec, Heidi Howard et al. · European Journal of Human Genetics · 2018 · 70 citations · Full text

, , +15

iVar, an Interpretation-Oriented Tool to Manage the Update and Revision of Variant Annotation and Classification

Sara Castellano, Federica Cestari, Giovanni Faglioni et al. · Genes · 2021 · 52 citations · Full text

, , +17

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

Julia el Mecky, Lennart Johansson, Mirjam Plantinga et al. · BMC Medical Genomics · 2019 · 51 citations · Full text

, , +14

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Kelly Schoch, Queenie K.‐G. Tan, Nicholas Stong et al. · Genetics in Medicine · 2020 · 43 citations · Full text

, , +16

Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines

Caitlin Chisholm, Hussein Daoud, Mahdi Ghani et al. · Genetics in Medicine · 2017 · 42 citations · Full text

, , +16

1–5 of 13

Authors

111

  1. RM
    Rossella Manfredini

    University of Modena and Reggio Emilia, Italy

    1 publications · 52 citations

    1

    h-index

  2. CC
    Caitlin Chisholm

    Children's Hospital of Eastern Ontario, Canada

    1 publications · 42 citations

    1

    h-index

  3. WK
    Wendy K. Chung

    Columbia University, United States

    1 publications · 29 citations

    1

    h-index

  4. QZ
    Qihuan Zhi

    Gene Tech (China), China

    1 publications · 13 citations

    1

    h-index

  5. ZL
    Zachary Laksman

    University of British Columbia, Canada

    1 publications · 19 citations

    1

    h-index

1–5 of 111

Institutions

58

  1. University of Ottawa

    Ottawa, Canada

    2 h-index

    4 publications

    145 citations

  2. Gene Tech (China)

    Hong Kong, China

    1 h-index

    10 publications

    130 citations

  3. Marshfield Clinic

    Marshfield, United States

    1 h-index

    1 publications

    19 citations

  4. Massachusetts General Hospital

    Boston, United States

    1 h-index

    2 publications

    48 citations

  5. X-Fab (Germany)

    Erfurt, Germany

    1 h-index

    1 publications

    19 citations

  6. University of Bologna

    Bologna, Italy

    1 h-index

    1 publications

    70 citations

  7. University of Manitoba

    Winnipeg, Canada

    1 h-index

    1 publications

    19 citations

  8. Southern Medical University

    Guangzhou, China

    1 h-index

    2 publications

    26 citations

1–8 of 58

Venues

  1. Genetics in Medicine

    GIM · 5 publications · 154 citations

    5

    h-index

  2. European Journal of Human Genetics

    EJHG · 1 publications · 70 citations

    1

    h-index

  3. Nature

    1 publications · 19 citations

    1

    h-index

  4. Genes

    1 publications · 52 citations

    1

    h-index

  5. Buildings

    1 publications · 31 citations

    1

    h-index

1–5