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v0.6.0

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@leahkemp leahkemp released this 27 Feb 23:11
· 12 commits to main since this release
v0.6.0
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Learn about vigilant mode.

What's Changed

New features

  • Add cohort (trio) analysis with DeepTrio (SNP's/indels) and Jasmine (SV's)
  • Optimise DeepTrio thanks to Kisaru Liyanage @kisarur! Much speed, little SU cost!
  • Make minimod haplotype aware
  • Make minimod output bed and bigwig files
  • Split multiallelic variants into biallelic variants
  • Update SV caller (sniffles and cuteSV) versions (2.3.3 to 2.6.0 and 1.0.13 to 2.1.1 respectively)
  • As a side effect of updating the SV callers, now SV's will be variant be called only within the regions of interest if a regions of interest file is provided)
  • Allow base modification analyses to be optional

Bug fixes

  • Add assumption that input data is in unaligned BAM (uBAM) format for base modification analyses. Fixes #38

Other changes

  • Update nextflow version (24.04.1 to 24.04.4) - use the latest version available as an environmental module on NCI
  • Inclusion of some un-reported software versions
  • Minor improvements to documentation

Full breakdown

Contributors

kisarur and leahkemp
Assets 2
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