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This repositorty contains all the scripts that I used for benchmakring Vaquita. The result was presented in WABI 2017 in Boston.

Prerequeistics

  • Variant callers
Name Reference Version
Vaquita source repository WABI2017
LumpyExpress Layer et al., 2014 0.2.13
Delly2 Rausch et al., 2012 0.7.3
CREST Wang et al., 2011 1.0
Pindel Ye et al., 2009 0.2.5b8
GASVPro Sindi et al., 2012 Oct1_2013

You can use wrapper scripts for several programs for your conveniecne.

  • Simulators
Name Reference Version
Mason Holtgrewe, 2010 2.0.5
ART Huang et al., 2012 MountRainer-2016.06.05

You can refer my commands for generating simulation datasets in simulations.txt.

  • Real datasets
Name Link or Accession #
Genome in a bottle ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/technical/svclassify_Manuscript/Supplementary_Information/Personalis_1000_Genomes_deduplicated_deletions.bed
Illumina Platinum Genomes ERR194147, ERR194160, and ERR194161

Configuration

Please open config.py, and change settings accordingly. For example, you may have to change binary files for variant callers in here.

Run & Reporting

You can refer my command in commands.txt.

Contact

Jongkyu Kim (vaquita_WABI@jongkyu.kim)

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Scripts and datasets for WABI 2017

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