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sawfish v0.12.0

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@ctsa ctsa released this 24 May 01:53
· 17 commits to main since this release

v0.12.0 - 2024-05-23

Added

  • CR-327 Add local SV phasing
    • Short-range phasing provided in VCF records wherever multiple hets are genotyped on one or more overlapping SV haplotypes

Changed

  • CR-340 Improve handling of multi-breakpoint haplotypes
    • Improves detection of complex SV breakpoints, especially for small inversions
  • CR-333 Adjust alignment for long breakpoint homology
    • Improves detection of high homology inversions
  • CR-330 Expand trimmed read search region for small SV regions
    • Improves detection of soft-clipped evidence for low homology insertions