First Release
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