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svtools v0.4.0

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@ernfrid ernfrid released this 03 Oct 02:08
· 68 commits to master since this release
2dc7f91

Major changes

  • SVTyper has been updated to 0.7.0 which brings in improvements to genotyping quality, duplication sensitivity and speed improvements (courtesy of @brentp) for CRAM files.
  • Support for 8-column VCFs.
  • Introduction of a protocol for tiered-merging for very large cohorts via enhancements to svtools lmerge. Thanks to @abelhj.
  • Multiple fixes to the classifier including manual specification of sex chromosomes which fixed a key bug when chromosomes were prefixed with a 'chr'.
  • Fixes to svtools varlookup for bugs in parsing the INFO field.
  • Fixed a major bug in svtools prune which occasionally resulted in incorrect results.
  • Set the copynumber for the entire sample to -1 if CNVnator is unable to genotype the sample correctly. Previously svtools copynumber would die upon encountering a -1 which resulted in truncated files.
  • Fixed a parsing bug in svtools vcftobedpe for BNDs on chromosomes containing a : in their name.

Minor changes

  • Multiple documentation improvements.
  • More helpful error handling in a number of situations.
  • Better support for manta VCFs.