Concepedia

Diagnostic Variant Interpretation

Diagnostic Variant Interpretation is a methodological framework within rare disease genomics that enables the systematic classification of genetic variants by integrating clinical and genomic evidence to determine their pathogenicity and diagnostic relevance.

1K

Publications

88.6K

Citations

11.3K

Authors

2.6K

Institutions

Publications per year

2017–2026

611

Parents

Publications

1K

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Quan Li, Kai Wang · The American Journal of Human Genetics · 2017 · 1.1K citations · Full text

, , +16

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci

Nature Genetics · 2013 · 873 citations · Full text

, , +16

Genetic Misdiagnoses and the Potential for Health Disparities

Arjun K. Manrai, Birgit Funke, Heidi L. Rehm et al. · New England Journal of Medicine · 2016 · 842 citations · Full text

, , +16

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 806 citations · Full text

, , +17

1–5 of 1K

Authors

11.3K

  1. HL
    Heidi L. Rehm

    Harvard University, United States

    17 publications · 35.3K citations

    16

    h-index

  2. LF
    Laurence Faivre

    Inserm, France

    12 publications · 679 citations

    12

    h-index

  3. DG
    Daniel G. MacArthur

    Broad Institute, United States

    11 publications · 2.9K citations

    11

    h-index

  4. TB
    Tobias B. Haack

    Technical University of Munich, Germany

    9 publications · 457 citations

    10

    h-index

  5. LG
    Leslie G. Biesecker

    National Human Genome Research Institute, United States

    10 publications · 911 citations

    10

    h-index

1–5 of 11.3K

Institutions

2.6K

  1. Inserm

    Paris, France

    39 h-index

    566 publications

    37.2K citations

  2. Harvard University

    Cambridge, United States

    34 h-index

    218 publications

    71.5K citations

  3. University College London

    London, United Kingdom

    32 h-index

    362 publications

    82.4K citations

  4. Massachusetts General Hospital

    Boston, United States

    26 h-index

    150 publications

    34.7K citations

  5. Baylor College of Medicine

    Houston, United States

    26 h-index

    219 publications

    19.1K citations

  6. National Institutes of Health

    Bethesda, United States

    26 h-index

    118 publications

    11.8K citations

  7. University of Oxford

    Oxford, United Kingdom

    25 h-index

    253 publications

    58.5K citations

  8. Radboud University Medical Center

    Nijmegen, The Netherlands

    24 h-index

    275 publications

    14.2K citations

1–8 of 2.6K

Venues

  1. Genetics in Medicine

    GIM · 60 publications · 39K citations

    41

    h-index

  2. Human Mutation

    66 publications · 3.6K citations

    37

    h-index

  3. European Journal of Human Genetics

    EJHG · 33 publications · 2K citations

    24

    h-index

  4. Journal of Medical Genetics

    JMG · 29 publications · 2.2K citations

    23

    h-index

  5. Clinical Genetics

    29 publications · 1.1K citations

    20

    h-index

1–5