Concepedia

Variant Calling Benchmarking

Variant Calling Benchmarking is a systematic evaluation framework that assesses the accuracy, sensitivity, and specificity of variant calling methods in metagenomic sequencing by comparing their predictions against a reference standard of known genetic variants.

106

Publications

9.7K

Citations

961

Authors

357

Institutions

Publications per year

2017–2026

76

Parents

Publications

106

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

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Integrating sequencing datasets to form highly confident SNP and indel genotype calls for a whole human genome

Justin M. Zook, Brad Chapman, Jason Wang et al. · arXiv (Cornell University) · 2013 · 552 citations · Full text

, , +15

Best practices for benchmarking germline small-variant calls in human genomes

Peter Krusche, Len Trigg, Paul C. Boutros et al. · Nature Biotechnology · 2019 · 503 citations · Full text

, , +16

An open resource for accurately benchmarking small variant and reference calls

Justin M. Zook, Jennifer McDaniel, Nathan D. Olson et al. · Nature Biotechnology · 2019 · 460 citations

, , +14

A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree

Michael A. Eberle, Epameinondas Fritzilas, Peter Krusche et al. · Genome Research · 2016 · 424 citations · Full text

, , +17

1–5 of 106

Authors

961

  1. JM
    Justin M. Zook

    National Institute of Standards and Technology, United States

    19 publications · 3.3K citations

    17

    h-index

  2. MS
    Marc Salit

    National Institute of Standards and Technology, United States

    11 publications · 2.3K citations

    11

    h-index

  3. ND
    Nathan D. Olson

    National Institute of Standards and Technology, United States

    10 publications · 1.4K citations

    10

    h-index

  4. FJ
    Fritz J. Sedlazeck

    Baylor College of Medicine, United States

    9 publications · 959 citations

    9

    h-index

  5. JW
    Justin Wagner

    National Institute of Standards and Technology, United States

    9 publications · 1.4K citations

    9

    h-index

1–5 of 961

Institutions

357

  1. National Institute of Standards and Technology

    Gaithersburg, United States

    17 h-index

    65 publications

    9.6K citations

  2. National Institutes of Health

    Bethesda, United States

    15 h-index

    51 publications

    6.8K citations

  3. Material Measurement Laboratory

    Gaithersburg, United States

    14 h-index

    58 publications

    9K citations

  4. Stanford University

    Stanford, United States

    13 h-index

    42 publications

    5.9K citations

  5. National Center for Biotechnology Information

    Bethesda, United States

    10 h-index

    22 publications

    3.3K citations

  6. Baylor College of Medicine

    Houston, United States

    10 h-index

    32 publications

    6.1K citations

  7. Google (United States)

    Mountain View, United States

    10 h-index

    30 publications

    4.5K citations

  8. Illumina (United States)

    San Diego, United States

    8 h-index

    48 publications

    8.2K citations

1–8 of 357

Venues

  1. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 23 publications · 978 citations

    14

    h-index

  2. Scientific Reports

    12 publications · 1.2K citations

    12

    h-index

  3. BMC Genomics

    7 publications · 554 citations

    7

    h-index

  4. Bioinformatics

    6 publications · 591 citations

    6

    h-index

  5. BMC Bioinformatics

    5 publications · 324 citations

    5

    h-index

1–5