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v0.2.0

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@epi2melabs-bot epi2melabs-bot released this 21 Sep 15:07
· 585 commits to master since this release

Added

  • An experimental methylation subworkflow has been integrated, using modbam2bed to aggregate modified base counts (input BAM should have MM and ML tags), enable this with --methyl

Changed

  • Workflow experimentally supports CRAM as input, uBAM input uses CRAM for intermediate files
  • Reference FAI is now created if it does not exist, rather than raising an error
  • --sniffles_args may be used to provide custom arguments to the sniffles2 process
  • Output files are uniformly prefixed with --sample_name

Fixed

  • Existence of Clair3 model directory is checked before starting workflow
  • --GVCF and --include_all_ctgs are correctly typed as booleans
    • --GVCF now outputs GVCF files to the output directory as intended
    • --include_all_ctgs no longer needs to be set as --include_all_ctgs y