Concepedia

Phenotype-driven Variant Prioritization

Phenotype-Driven Variant Prioritization is a genomic analysis approach that integrates patient phenotypic data to computationally rank genetic variants according to their likelihood of being causally associated with the observed clinical traits, thereby distinguishing it from variant prioritization methods relying solely on population frequency, functional impact, or inheritance patterns.

25

Publications

1.5K

Citations

188

Authors

89

Institutions

Publications per year

2017–2026

18

Parents

Publications

25

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

Hui Yang, Peter N. Robinson, Kai Wang · Nature Methods · 2015 · 439 citations · Full text

, , +16

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

Gil Stelzer, Inbar Plaschkes, Danit Oz-Levi et al. · BMC Genomics · 2016 · 282 citations · Full text

, , +17

DeepPVP: phenotype-based prioritization of causative variants using deep learning

Imane Boudellioua, Maxat Kulmanov, Paul N. Schofield et al. · BMC Bioinformatics · 2019 · 79 citations · Full text

, , +16

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Valentina Cipriani, Nikolas Pontikos, Gavin Arno et al. · Genes · 2020 · 70 citations · Full text

, , +17

Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks

Aditya Rao, VG Saipradeep, Thomas Joseph et al. · BMC Medical Genomics · 2018 · 60 citations · Full text

, , +15

1–5 of 25

Authors

188

  1. PN
    Peter N. Robinson

    Charité - Universitätsmedizin Berlin, Germany

    4 publications · 582 citations

    4

    h-index

  2. RH
    Robert Hoehndorf

    King Abdullah University of Science and Technology, Saudi Arabia

    2 publications · 115 citations

    2

    h-index

  3. JO
    Julius O.B. Jacobsen

    Queen Mary University of London, United Kingdom

    2 publications · 85 citations

    2

    h-index

  4. DA
    Denise Anderson

    The University of Western Australia, Australia

    2 publications · 62 citations

    2

    h-index

  5. GV
    Georgios V. Gkoutos

    University of Birmingham, United Kingdom

    2 publications · 115 citations

    2

    h-index

1–5 of 188

Institutions

89

  1. Queen Mary University of London

    London, United Kingdom

    2 h-index

    7 publications

    270 citations

  2. NIHR Surgical Reconstruction and Microbiology Research Centre

    Birmingham, United Kingdom

    2 h-index

    2 publications

    115 citations

  3. University Hospitals Birmingham NHS Foundation Trust

    Birmingham, United Kingdom

    2 h-index

    2 publications

    115 citations

  4. University of Southern California

    Los Angeles, United States

    2 h-index

    4 publications

    912 citations

  5. University of Cambridge

    Cambridge, United Kingdom

    2 h-index

    2 publications

    115 citations

  6. Stanford University

    Stanford, United States

    2 h-index

    15 publications

    564 citations

  7. NIHR CRUK Experimental Cancer Medicine Centre

    Southampton, United Kingdom

    2 h-index

    2 publications

    115 citations

  8. Stanford Medicine

    Stanford, United States

    2 h-index

    2 publications

    78 citations

1–8 of 89

Venues

  1. BMC Bioinformatics

    3 publications · 155 citations

    3

    h-index

  2. BMC Medical Genomics

    3 publications · 108 citations

    3

    h-index

  3. Genetics in Medicine

    GIM · 3 publications · 126 citations

    3

    h-index

  4. Briefings in Bioinformatics

    2 publications · 66 citations

    2

    h-index

  5. BMC Genomics

    2 publications · 295 citations

    2

    h-index

1–5