Concepedia

Clinvar Curation

ClinVar Curation is a scholarly activity in genomic medicine that involves the systematic evaluation, classification, and documentation of genetic variants and their phenotypic associations within the ClinVar database to support standardized, evidence-based interpretation of clinical significance.

64

Publications

11.2K

Citations

913

Authors

280

Institutions

Publications per year

2017–2026

56

Parents

Publications

64

ClinVar: public archive of relationships among sequence variation and human phenotype

Melissa Landrum, Jennifer M. Lee, Wonhee Jang et al. · Nucleic Acids Research · 2013 · 3.7K citations · Full text

, , +16

ClinVar: public archive of interpretations of clinically relevant variants

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text

, , +17

ClinVar: improvements to accessing data

Melissa Landrum, Shanmuga Chitipiralla, Garth Brown et al. · Nucleic Acids Research · 2019 · 1.1K citations · Full text

, , +17

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Steven M. Harrison, Jill S. Dolinsky, Amy E. Knight Johnson et al. · Genetics in Medicine · 2017 · 251 citations · Full text

, , +13

PrimeDesign software for rapid and simplified design of prime editing guide RNAs

Jonathan Y. Hsu, Julian Grünewald, Regan N. Szalay et al. · Nature Communications · 2021 · 190 citations · Full text

, , +15

1–5 of 64

Authors

913

  1. HL
    Heidi L. Rehm

    Harvard University, United States

    7 publications · 696 citations

    7

    h-index

  2. ML
    Melissa Landrum

    National Center for Biotechnology Information, United States

    6 publications · 7.9K citations

    6

    h-index

  3. SM
    Steven M. Harrison

    Broad Institute, United States

    5 publications · 647 citations

    5

    h-index

  4. DM
    Donna Maglott

    National Center for Biotechnology Information, United States

    4 publications · 7.7K citations

    4

    h-index

  5. DR
    Danielle R. Azzariti

    Mass General Brigham, United States

    4 publications · 581 citations

    4

    h-index

1–5 of 913

Institutions

280

  1. Harvard University

    Cambridge, United States

    11 h-index

    31 publications

    3.3K citations

  2. Broad Institute

    Cambridge, United States

    8 h-index

    17 publications

    1.6K citations

  3. Mass General Brigham

    Boston, United States

    7 h-index

    19 publications

    2.4K citations

  4. National Center for Biotechnology Information

    Bethesda, United States

    6 h-index

    73 publications

    106.7K citations

  5. Massachusetts General Hospital

    Boston, United States

    6 h-index

    27 publications

    2.3K citations

  6. Baylor College of Medicine

    Houston, United States

    5 h-index

    10 publications

    612 citations

  7. National Institutes of Health

    Bethesda, United States

    5 h-index

    72 publications

    106.9K citations

  8. University of Chicago

    Chicago, United States

    4 h-index

    10 publications

    1.1K citations

1–8 of 280

Venues

  1. Human Mutation

    14 publications · 758 citations

    14

    h-index

  2. Nucleic Acids Research

    8 publications · 8.2K citations

    8

    h-index

  3. Scientific Reports

    4 publications · 215 citations

    4

    h-index

  4. Nature Communications

    4 publications · 355 citations

    4

    h-index

  5. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 3 publications · 53 citations

    3

    h-index

1–5