Skip to content

First Release

Choose a tag to compare

@micknudsen micknudsen released this 23 Jun 13:40

ITDiscover v0.1.0

First functional release of ITDiscover for calling internal tandem duplications (ITDs) from amplicon sequencing data.

Added

  • Exact-match calling from paired-end FASTQ input
  • Flat CLI interface:
    • itdiscover --reference ... --r1 ... --r2 ...
  • Call-level reporting of:
    • tandem start
    • insertion start
    • duplicated sequence
    • support count
    • unique support count
    • coverage
    • VAF
  • HTML support report via --output report.html
  • Representative-alignment reporting for unique support patterns
  • Per-pattern support counts in the HTML report
  • Base-level highlighting of differences between support representatives

Known limitations

  • Exact-match ITD detection only in this release
  • No fuzzy similarity-based ITD classification yet
  • No extended annotation layer yet beyond current call/report output