Concepedia

Next-generation Sequencing Interpretation

Next-Generation Sequencing Interpretation is a computational and analytical framework in genomic medicine that systematically identifies, classifies, and evaluates germline variants detected through high-throughput sequencing technologies to determine their clinical significance in cancer predisposition.

101

Publications

7.1K

Citations

1.5K

Authors

463

Institutions

Publications per year

2017–2026

64

Variants

Ngs Interpretation

Parents

Publications

101

Variant Review with the Integrative Genomics Viewer

James Robinson, Helga Thorvaldsdóttir, Aaron M. Wenger et al. · Cancer Research · 2017 · 1.3K citations · Full text

, , +17

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M. Amendola, Gail P. Jarvik, Michael C. Leo et al. · The American Journal of Human Genetics · 2016 · 580 citations · Full text

, , +16

Rapid SARS-CoV-2 whole-genome sequencing and analysis for informed public health decision-making in the Netherlands

Bas B. Oude Munnink, David F. Nieuwenhuijse, Mart L. Stein et al. · Nature Medicine · 2020 · 354 citations · Full text

, , +14

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Andrew Kirby, Andreas Gnirke, David B. Jaffe et al. · Nature Genetics · 2013 · 316 citations · Full text

, , +12

Next-generation sequencing of the TET2 gene in 355 MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value

Alexander Smith, Azim Mohamedali, Austin Kulasekararaj et al. · Blood · 2010 · 220 citations · Full text

, , +10

1–5 of 101

Authors

1.5K

  1. HL
    Heidi L. Rehm

    Harvard University, United States

    4 publications · 798 citations

    4

    h-index

  2. MS
    Matthew S. Lebo

    Mass General Brigham, United States

    4 publications · 798 citations

    4

    h-index

  3. GP
    Gail P. Jarvik

    University of Washington, United States

    3 publications · 719 citations

    3

    h-index

  4. RC
    Robert C. Green

    Harvard University, United States

    3 publications · 766 citations

    3

    h-index

  5. AK
    Alanna Kulchak Rahm

    Geisinger Health System, United States

    2 publications · 126 citations

    2

    h-index

1–5 of 1.5K

Institutions

463

  1. Harvard University

    Cambridge, United States

    10 h-index

    30 publications

    4.3K citations

  2. Inserm

    Paris, France

    7 h-index

    32 publications

    1.6K citations

  3. Université Paris Cité

    Paris, France

    6 h-index

    22 publications

    1.1K citations

  4. Broad Institute

    Cambridge, United States

    6 h-index

    40 publications

    13.7K citations

  5. Sorbonne Paris Cité

    Paris, France

    5 h-index

    18 publications

    875 citations

  6. University of Washington

    Seattle, United States

    5 h-index

    12 publications

    908 citations

  7. Memorial Sloan Kettering Cancer Center

    New York, United States

    5 h-index

    99 publications

    11.8K citations

  8. Massachusetts General Hospital

    Boston, United States

    5 h-index

    9 publications

    816 citations

1–8 of 463

Venues

  1. PLoS ONE

    5 publications · 158 citations

    5

    h-index

  2. Bioinformatics

    4 publications · 91 citations

    4

    h-index

  3. Genetics in Medicine

    GIM · 4 publications · 360 citations

    4

    h-index

  4. BMC Bioinformatics

    3 publications · 100 citations

    3

    h-index

  5. Journal of Genetic Counseling

    3 publications · 78 citations

    3

    h-index

1–5