Concepedia

Genomic Variant Analysis

Genomic Variant Analysis is a computational methodology in bioinformatics that identifies, characterizes, and interprets differences in DNA sequences relative to a reference genome, enabling the systematic discovery of genetic variations associated with phenotypic traits or diseases.

230

Publications

12.3K

Citations

2.3K

Authors

731

Institutions

Publications per year

2017–2026

129

Parents

Publications

230

<scp>vcfr</scp>: a package to manipulate and visualize variant call format data in R

Brian J. Knaus, Niklaus J. Grünwald · Molecular Ecology Resources · 2016 · 1.1K citations

, , +17

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

Umadevi Paila, Brad Chapman, Rory Kirchner et al. · PLoS Computational Biology · 2013 · 475 citations · Full text

, , +17

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger et al. · Bioinformatics · 2019 · 409 citations · Full text

, , +12

<tt>VariantAnnotation</tt> : a <tt>Bioconductor</tt> package for exploration and annotation of genetic variants

Valerie Obenchain, Michael Lawrence, Vincent J. Carey et al. · Bioinformatics · 2014 · 390 citations · Full text

, , +12

How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis

Mauno Vihinen · BMC Genomics · 2012 · 311 citations · Full text

, , +13

1–5 of 230

Authors

2.3K

  1. AE
    Adriana E. Kajon

    Lovelace Respiratory Research Institute, United States

    5 publications · 149 citations

    5

    h-index

  2. TS
    Torsten Seemann

    The University of Melbourne, Australia

    4 publications · 144 citations

    4

    h-index

  3. TP
    Timothy P. Stinear

    The University of Melbourne, Australia

    4 publications · 144 citations

    4

    h-index

  4. PD
    Paul Dan Cristea

    Universitatea Națională de Știință și Tehnologie Politehnica București, Romania

    3 publications · 47 citations

    3

    h-index

  5. RR
    Ryan R. Wick

    The University of Melbourne, Australia

    3 publications · 67 citations

    3

    h-index

1–5 of 2.3K

Institutions

731

  1. Harvard University

    Cambridge, United States

    16 h-index

    69 publications

    7.9K citations

  2. Stanford University

    Stanford, United States

    10 h-index

    76 publications

    4.8K citations

  3. University of Pennsylvania

    Philadelphia, United States

    9 h-index

    51 publications

    2.7K citations

  4. National Institutes of Health

    Bethesda, United States

    9 h-index

    76 publications

    3.6K citations

  5. The University of Melbourne

    Melbourne, Australia

    8 h-index

    44 publications

    1.5K citations

  6. Johns Hopkins University

    Baltimore, United States

    8 h-index

    20 publications

    812 citations

  7. Memorial Sloan Kettering Cancer Center

    New York, United States

    8 h-index

    88 publications

    7.3K citations

  8. Mayo Clinic

    Rochester, United States

    8 h-index

    13 publications

    910 citations

1–8 of 731

Venues

  1. Bioinformatics

    19 publications · 1.5K citations

    16

    h-index

  2. PLoS ONE

    9 publications · 201 citations

    9

    h-index

  3. Scientific Reports

    7 publications · 285 citations

    8

    h-index

  4. Human Mutation

    8 publications · 375 citations

    8

    h-index

  5. Genome Medicine

    5 publications · 375 citations

    6

    h-index

1–5