Concepedia

Computational Pathogenicity Prediction

Computational Pathogenicity Prediction is a computational method that systematically estimates the likelihood of a genetic variant being disease-causing by integrating genomic data with evolutionary, structural, and functional annotations through algorithmic models.

225

Publications

23.6K

Citations

1.5K

Authors

614

Institutions

Publications per year

2017–2026

160

Parents

Publications

225

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 3K citations · Full text

, , +14

Accurate proteome-wide missense variant effect prediction with AlphaMissense

Jun Cheng, Guido Novati, Joshua Pan et al. · Science · 2023 · 2K citations

, , +15

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

Hashem A. Shihab, Julian Gough, D.N. Cooper et al. · Human Mutation · 2012 · 1.4K citations · Full text

, , +16

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

Daniel Quang, Yifei Chen, Xiaohui Xie · Bioinformatics · 2014 · 1.1K citations · Full text

, , +16

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle · Human Mutation · 2011 · 860 citations · Full text

, , +17

1–5 of 225

Authors

1.5K

  1. DC
    D.N. Cooper

    Cardiff University, United Kingdom

    9 publications · 2.8K citations

    9

    h-index

  2. PD
    Peter D. Stenson

    Cardiff University, United Kingdom

    6 publications · 2.2K citations

    6

    h-index

  3. XD
    Xavier de la Cruz

    Institució Catalana de Recerca i Estudis Avançats, Spain

    5 publications · 513 citations

    5

    h-index

  4. TL
    Tom Lenaerts

    Université Libre de Bruxelles, Belgium

    4 publications · 223 citations

    4

    h-index

  5. SP
    Sofia Papadimitriou

    Université Libre de Bruxelles, Belgium

    4 publications · 223 citations

    4

    h-index

1–5 of 1.5K

Institutions

614

  1. Harvard University

    Cambridge, United States

    10 h-index

    33 publications

    6K citations

  2. Cardiff University

    Cardiff, United Kingdom

    9 h-index

    18 publications

    5.6K citations

  3. Inserm

    Paris, France

    7 h-index

    34 publications

    2.6K citations

  4. University of Cambridge

    Cambridge, United Kingdom

    6 h-index

    7 publications

    300 citations

  5. Broad Institute

    Cambridge, United States

    6 h-index

    10 publications

    2.9K citations

  6. University of Bologna

    Bologna, Italy

    6 h-index

    11 publications

    1.5K citations

  7. Charité - Universitätsmedizin Berlin

    Berlin, Germany

    5 h-index

    14 publications

    498 citations

  8. Stanford University

    Stanford, United States

    5 h-index

    16 publications

    18.8K citations

1–8 of 614

Venues

  1. Human Mutation

    23 publications · 5K citations

    22

    h-index

  2. Bioinformatics

    16 publications · 2.7K citations

    14

    h-index

  3. PLoS ONE

    11 publications · 1.5K citations

    11

    h-index

  4. BMC Bioinformatics

    11 publications · 407 citations

    11

    h-index

  5. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 8 publications · 194 citations

    8

    h-index

1–5