Concepedia

Variant Benchmarking

Variant Benchmarking is a systematic evaluation framework used in genomics to assess the accuracy, sensitivity, and precision of variant calling methods by comparing their outputs against a reference standard or truth set.

109

Publications

10.3K

Citations

692

Authors

274

Institutions

Publications per year

2017–2026

78

Parents

Publications

109

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

Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software

Daniel Cameron, Leon Di Stefano, Anthony T. Papenfuss · Nature Communications · 2019 · 387 citations · Full text

, , +17

1–5 of 109

Authors

692

  1. JM
    Justin M. Zook

    National Institute of Standards and Technology, United States

    16 publications · 3.1K citations

    15

    h-index

  2. JW
    Justin Wagner

    National Institute of Standards and Technology, United States

    9 publications · 1.4K citations

    9

    h-index

  3. ND
    Nathan D. Olson

    National Institute of Standards and Technology, United States

    9 publications · 1.4K citations

    9

    h-index

  4. FJ
    Fritz J. Sedlazeck

    Baylor College of Medicine, United States

    8 publications · 890 citations

    8

    h-index

  5. MS
    Marc Salit

    National Institute of Standards and Technology, United States

    8 publications · 2.1K citations

    8

    h-index

1–5 of 692

Institutions

274

  1. National Institute of Standards and Technology

    Gaithersburg, United States

    14 h-index

    52 publications

    8.5K citations

  2. Material Measurement Laboratory

    Gaithersburg, United States

    13 h-index

    51 publications

    8.6K citations

  3. Stanford University

    Stanford, United States

    12 h-index

    32 publications

    5.2K citations

  4. National Institutes of Health

    Bethesda, United States

    11 h-index

    16 publications

    2K citations

  5. Lund University

    Lund, Sweden

    9 h-index

    14 publications

    968 citations

  6. Baylor College of Medicine

    Houston, United States

    9 h-index

    28 publications

    3.2K citations

  7. DNAnexus (United States)

    Mountain View, United States

    8 h-index

    19 publications

    3.2K citations

  8. Google (United States)

    Mountain View, United States

    7 h-index

    27 publications

    4.3K citations

1–8 of 274

Venues

  1. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 18 publications · 742 citations

    14

    h-index

  2. Bioinformatics

    10 publications · 699 citations

    10

    h-index

  3. Genome biology

    7 publications · 284 citations

    7

    h-index

  4. Scientific Reports

    7 publications · 855 citations

    7

    h-index

  5. PLoS ONE

    5 publications · 452 citations

    5

    h-index

1–5