Concepedia

Evidence Weighting Frameworks

Evidence Weighting Frameworks is a systematic approach used in variant interpretation that belongs to the class of methodological frameworks and is distinguished by its formalized structure for assigning, integrating, and prioritizing multiple lines of biological, clinical, and computational evidence to assess the pathogenicity of genetic variants.

7

Publications

217

Citations

248

Authors

37

Institutions

Publications per year

2017–2026

5

Parents

Publications

7

C197. The best explicatum for weight of evidence

I. J. Good · Journal of Statistical Computation and Simulation · 1984 · 76 citations

, , +6

WICID framework version 1.0: criteria and considerations to guide evidence-informed decision-making on non-pharmacological interventions targeting COVID-19

Jan M Stratil, Maike Voss, Laura Arnold · BMJ Global Health · 2020 · 45 citations · Full text

, , +16

Finding the right fit: A comparison of process assumptions underlying popular drift-diffusion models.

Nathaniel J. S. Ashby, Marc Jekel, Stephan Dickert et al. · Journal of Experimental Psychology Learning Memory and Cognition · 2016 · 37 citations · Full text

, , +17

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Lucy Loong, Cankut Çubuk, Subin Choi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

, , +14

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · medRxiv · 2023 · 16 citations · Full text

, , +17

1–5 of 7

Authors

248

  1. LC
    Logan C. Walker

    QIMR Berghofer Medical Research Institute, Australia

    3 publications · 48 citations

    2

    h-index

  2. JD
    JC Del Rey Jimenez

    Sheffield Children's NHS Foundation Trust, United Kingdom

    1 publications · 16 citations

    1

    h-index

  3. NW
    N. Woodwaer

    Manchester University NHS Foundation Trust, United Kingdom

    1 publications · 16 citations

    1

    h-index

  4. AK
    A. Kulkarni

    Guy's and St Thomas' NHS Foundation Trust, United Kingdom

    1 publications · 16 citations

    1

    h-index

  5. LR
    L. Rainey

    Cambridge University Hospitals NHS Foundation Trust, United Kingdom

    1 publications · 16 citations

    1

    h-index

1–5 of 248

Institutions

37

  1. North Bristol NHS Trust

    Bristol, United Kingdom

    1 h-index

    2 publications

    32 citations

  2. NIHR Royal Brompton Cardiovascular Biomedical Research Unit

    London, United Kingdom

    1 h-index

    1 publications

    16 citations

  3. Sheffield Children's NHS Foundation Trust

    Sheffield, United Kingdom

    1 h-index

    1 publications

    16 citations

  4. Linköping University

    Linköping, Sweden

    1 h-index

    1 publications

    37 citations

  5. Ludwig-Maximilians-Universität München

    Munich, Germany

    1 h-index

    1 publications

    45 citations

  6. MRC London Institute of Medical Sciences

    London, United Kingdom

    1 h-index

    38 publications

    608 citations

  7. Broad Institute

    Cambridge, United States

    1 h-index

    2 publications

    32 citations

  8. Wellcome Centre for Integrative Neuroimaging

    Oxford, United Kingdom

    1 h-index

    3 publications

    45 citations

1–8 of 37

Venues

  1. Faith and Philosophy

    1 publications · 12 citations

    1

    h-index

  2. Journal of Statistical Computation and Simulation

    JSCS · 1 publications · 76 citations

    1

    h-index

  3. medRxiv

    Repository · 1 publications · 16 citations

    1

    h-index

  4. Genetics in Medicine

    GIM · 1 publications · 16 citations

    1

    h-index

  5. BMJ Global Health

    1 publications · 45 citations

    1

    h-index

1–5