Concepedia

Variant Filtering

Variant Filtering is a computational procedure in genome sequencing informatics that belongs to the class of variant analysis methods, specifically designed to distinguish biologically meaningful genetic variants from sequencing artifacts or false positives by applying quality, frequency, and annotation-based thresholds during variant calling.

152

Publications

8.6K

Citations

1.4K

Authors

556

Institutions

Publications per year

2017–2026

98

Parents

Publications

152

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

Goo Jun, Mary Kate Wing, Gonçalo R. Abecasis et al. · Genome Research · 2015 · 536 citations · Full text

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Unified representation of genetic variants

Adrian Tan, Gonçalo R. Abecasis, Hyun Min Kang · Bioinformatics · 2015 · 470 citations · Full text

, , +15

Using high-resolution variant frequencies to empower clinical genome interpretation

Nicola Whiffin, Eric Vallabh Minikel, Roddy Walsh et al. · Genetics in Medicine · 2017 · 467 citations · Full text

, , +17

Targeted next-generation sequencing of circulating-tumor DNA for tracking minimal residual disease in localized colon cancer

N. Tarazona, Francisco Gimeno-Valiente, Valentina Gambardella et al. · Annals of Oncology · 2019 · 283 citations · Full text

, , +17

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

Joke Reumers, Peter De Rijk, Hui Zhao et al. · Nature Biotechnology · 2011 · 253 citations

, , +15

1–5 of 152

Authors

1.4K

  1. AO
    Anne O’Donnell‐Luria

    Broad Institute, United States

    7 publications · 666 citations

    6

    h-index

  2. SM
    Steven M. Harrison

    Broad Institute, United States

    5 publications · 285 citations

    4

    h-index

  3. CM
    Christopher M. Watson

    University of Leeds, United Kingdom

    4 publications · 109 citations

    4

    h-index

  4. HD
    Harriet Dashnow

    University of Utah, United States

    4 publications · 269 citations

    4

    h-index

  5. KJ
    Konrad J. Karczewski

    Massachusetts General Hospital, United States

    3 publications · 543 citations

    3

    h-index

1–5 of 1.4K

Institutions

556

  1. Harvard University

    Cambridge, United States

    14 h-index

    57 publications

    5K citations

  2. Broad Institute

    Cambridge, United States

    12 h-index

    56 publications

    4.6K citations

  3. University of Utah

    Salt Lake City, United States

    10 h-index

    35 publications

    2.5K citations

  4. Baylor College of Medicine

    Houston, United States

    8 h-index

    37 publications

    1.6K citations

  5. Boston Children's Hospital

    Boston, United States

    8 h-index

    46 publications

    2.6K citations

  6. Johns Hopkins University

    Baltimore, United States

    8 h-index

    33 publications

    965 citations

  7. Stanford University

    Stanford, United States

    8 h-index

    28 publications

    834 citations

  8. Massachusetts General Hospital

    Boston, United States

    7 h-index

    38 publications

    4.6K citations

1–8 of 556

Venues

  1. Bioinformatics

    12 publications · 894 citations

    12

    h-index

  2. BMC Bioinformatics

    9 publications · 596 citations

    9

    h-index

  3. Human Mutation

    9 publications · 398 citations

    9

    h-index

  4. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 8 publications · 226 citations

    8

    h-index

  5. PLoS ONE

    6 publications · 265 citations

    6

    h-index

1–5