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  4. Repetitive DNA
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An integrated structural variant prediction method that can detect deletions, tandem duplications, inversions and translocations at single-nucleotide resolution in short-read massively parallel sequencing data.

Software type:
Package
Interface:
Command line interface
Restrictions to use:
None
Operating system:
Unix/Linux
Computer skills:
Advanced
Stability:
Stable
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  • (Rausch et al., 2012) DELLY: structural variant discovery by integrated paired-end and split-read analysis. Bioinformatics.
    PMID: 22962449
  • (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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