Concepedia

Pathogenic Variant Detection

Pathogenic Variant Detection is a genomic analysis method that identifies disease-causing genetic alterations by distinguishing functionally deleterious variants from benign or uncertain polymorphisms in DNA sequences.

1.6K

Publications

94.9K

Citations

14.8K

Authors

3.2K

Institutions

Publications per year

2017–2026

916

Parents

Publications

1.6K

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

, , +17

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

Matthew T. Maurano, Richard Humbert, Eric Rynes et al. · Science · 2012 · 4K citations · Full text

, , +17

ClinGen — The Clinical Genome Resource

Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks et al. · New England Journal of Medicine · 2015 · 1.5K citations · Full text

, , +17

Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories

Jennifer Saam, Christopher Arnell, Aaron Theisen et al. · Oncology · 2015 · 1.5K citations · Full text

, , +17

Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur, Teri A. Manolio, David Dimmock et al. · Nature · 2014 · 1.3K citations · Full text

, , +17

1–5 of 1.6K

Authors

14.8K

  1. DC
    D.N. Cooper

    Cardiff University, United Kingdom

    13 publications · 11.6K citations

    13

    h-index

  2. DG
    Daniel G. MacArthur

    Broad Institute, United States

    11 publications · 13.3K citations

    12

    h-index

  3. SE
    Stylianos E. Antonarakis

    University of Geneva, Switzerland

    11 publications · 1.9K citations

    11

    h-index

  4. AO
    Anne O’Donnell‐Luria

    Broad Institute, United States

    10 publications · 11.9K citations

    11

    h-index

  5. HL
    Heidi L. Rehm

    Harvard University, United States

    10 publications · 3.4K citations

    10

    h-index

1–5 of 14.8K

Institutions

3.2K

  1. Harvard University

    Cambridge, United States

    36 h-index

    225 publications

    131.6K citations

  2. Inserm

    Paris, France

    36 h-index

    404 publications

    21K citations

  3. Broad Institute

    Cambridge, United States

    32 h-index

    254 publications

    580.6K citations

  4. University College London

    London, United Kingdom

    27 h-index

    202 publications

    12.4K citations

  5. Radboud University Nijmegen

    Nijmegen, The Netherlands

    26 h-index

    201 publications

    13.1K citations

  6. The University of Melbourne

    Melbourne, Australia

    25 h-index

    157 publications

    10.7K citations

  7. Radboud University Medical Center

    Nijmegen, The Netherlands

    25 h-index

    194 publications

    12.9K citations

  8. Massachusetts General Hospital

    Boston, United States

    24 h-index

    163 publications

    340.5K citations

1–8 of 3.2K

Venues

  1. Human Mutation

    90 publications · 5.6K citations

    39

    h-index

  2. Genetics in Medicine

    GIM · 47 publications · 4.1K citations

    33

    h-index

  3. Clinical Genetics

    48 publications · 1.8K citations

    25

    h-index

  4. PLoS ONE

    35 publications · 2.1K citations

    24

    h-index

  5. PubMed

    Repository · 58 publications · 2K citations

    23

    h-index

1–5