Concepedia

Insertion-deletion Variant Calling

Insertion-Deletion Variant Calling is a computational method in variant analysis that identifies and characterizes insertion and deletion mutations in genomic sequences by distinguishing them from other types of genetic variants through alignment-based signal interpretation and artifact filtering.

64

Publications

20.4K

Citations

387

Authors

145

Institutions

Publications per year

2017–2026

22

Parents

Publications

64

The variant call format and VCFtools

Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text

, , +17

novoSNP, a novel computational tool for sequence variation discovery

Stefan Weckx, Jurgen Del‐Favero, Rosa Rademakers et al. · Genome Research · 2005 · 288 citations · Full text

, , +17

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls

Bart Janssen, Christian Hartmann, V. Scholz et al. · Neurogenetics · 2005 · 168 citations

, , +12

cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing

Keiran Raine, Jonathan Hinton, Adam P. Butler et al. · Current Protocols in Bioinformatics · 2015 · 150 citations · Full text

, , +17

Performance evaluation of indel calling tools using real short-read data

Mohammad Shabbir Hasan, Xiaowei Wu, Liqing Zhang · Human Genomics · 2015 · 110 citations · Full text

, , +16

1–5 of 64

Authors

387

  1. DH
    Daniel Hughes

    Baylor College of Medicine, United States

    2 publications · 65 citations

    2

    h-index

  2. JF
    Jesse Farek

    Baylor College of Medicine, United States

    2 publications · 65 citations

    2

    h-index

  3. FJ
    Fritz J. Sedlazeck

    Baylor College of Medicine, United States

    2 publications · 65 citations

    2

    h-index

  4. WS
    William Salerno

    Regeneron (United States), United States

    2 publications · 65 citations

    2

    h-index

  5. LZ
    Liqing Zhang

    Virginia Tech, United States

    2 publications · 120 citations

    2

    h-index

1–5 of 387

Institutions

145

  1. Johns Hopkins Medicine

    Baltimore, United States

    3 h-index

    13 publications

    243 citations

  2. Wellcome Sanger Institute

    Cambridge, United Kingdom

    3 h-index

    23 publications

    214.5K citations

  3. Virginia Tech

    Blacksburg, United States

    3 h-index

    12 publications

    470 citations

  4. Johns Hopkins University

    Baltimore, United States

    3 h-index

    13 publications

    243 citations

  5. University of Michigan

    Ann Arbor, United States

    2 h-index

    5 publications

    104 citations

  6. University of Hong Kong

    Pok Fu Lam, Hong Kong

    2 h-index

    3 publications

    62 citations

  7. Centre for Human Genetics

    Oxford, United Kingdom

    2 h-index

    16 publications

    213.4K citations

  8. Broad Institute

    Cambridge, United States

    2 h-index

    15 publications

    213.2K citations

1–8 of 145

Venues

  1. Bioinformatics

    6 publications · 17.9K citations

    6

    h-index

  2. BMC Genomics

    5 publications · 140 citations

    5

    h-index

  3. PLoS ONE

    5 publications · 152 citations

    5

    h-index

  4. Forensic Science International Genetics

    FSI · 4 publications · 142 citations

    4

    h-index

  5. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 4 publications · 149 citations

    4

    h-index

1–5