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  4. Structural variant detection
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A pipeline to detect structural variants (SVs) by integrating calls from several existing SV callers, which are then validated and the breakpoints refined using local de novo assembly.

Software type:
Package
Interface:
Command line interface
Restrictions to use:
None
Biological technology:
Illumina
Operating system:
Unix/Linux
Programming languages:
Perl
Computer skills:
Advanced
Stability:
Stable
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  • (Wong et al., 2010) Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly. Genome biology.
    PMID: 21194472
  • (Lin et al., 2014) Making the difference: integrating structural variation detection tools. Briefings in bioinformatics.
    PMID: 25504367

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