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A method that identifies SVs and their precise breakpoints from whole-genome resequencing data. PRISM uses a split-alignment approach informed by the mapping of paired-end reads, hence enabling breakpoint identification of multiple SV types, including arbitrary-sized inversions, deletions and tandem duplications.

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Command line interface
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  • (Jiang et al., 2012) PRISM: pair-read informed split-read mapping for base-pair level detection of insertion, deletion and structural variants. Bioinformatics.
    PMID: 22851530
  • (Lim et al., 2013) Review of tandem repeat search tools: a systematic approach to evaluating algorithmic performance. Briefings in bioinformatics.
    PMID: 22648964
  • (Treangen and Salzberg, 2012) Repetitive DNA and next-generation sequencing: computational challenges and solutions. Nature reviews Genetics.
    PMID: 22124482
  • (Cao et al., 2014) Sequencing technologies and tools for short tandem repeat variation detection. Briefings in bioinformatics.
    PMID: 24504770

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