TSSV

TSSV is a Python package designed for the specific profiling of all allelic variants present in targeted loci, particularly short tandem repeats (STRs). TSSV can accurately determine allelic STR structures in highly polymorphic, repetitive, or uncharacterized regions without requiring a complete reference sequence. TSSV has been shown to reliably profile complex mixtures and de novo mutations introduced by transcription activator-like effector nucleases (TALENs), and has a range of applications, from personal genomics to forensic analysis and clinical diagnostics.

Topic

Genetics;DNA structural variation;Genomics

Detail

  • Operation: Structure analysis

  • Software interface: Library

  • Language: Python

  • License: MIT License

  • Cost: Free

  • Version name: -

  • Credit: The Centre for Molecular Systems Biology (CMSB), Duchenne Parent Project (the Netherlands) and a grant from the Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO) within the framework of the Forensic Genomics Consortium Netherlands.

  • Input: -

  • Output: -

  • Contact: HumGen@LUMC.nl

  • Collection: -

  • Maturity: -

Publications

  • TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes.
  • Anvar SY, et al. TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes. TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes. 2014; 30:1651-9. doi: 10.1093/bioinformatics/btu068
  • https://doi.org/10.1093/bioinformatics/btu068
  • PMID: 24532718
  • PMC: -

Download and documentation

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