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v1.9.0

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@epi2melabs-bot epi2melabs-bot released this 17 Nov 12:54
· 296 commits to master since this release

Added

  • STR workflow report now includes additional plots which display repeat units and interruptions in each supporting read
  • CNV workflow now outputs an indexed VCF file to the output directory

Changed

  • Legend symbols in STR genotpying plot
  • Unambiguous naming of bedMethyl files generated with --mod
    • Unphased outputs will have the pattern [sample_name].wf_mods.bedmethyl.gz
    • Phased outputs will have the pattern [sample_name]_[1|2|ungrouped].wf_mods.bedmethyl.gz

Fixed

  • Report step failing if bcftools stats file has only some sub-sections
  • Clair3 ignoring the bed file
  • merge_haplotagged_contigs incorrectly generating intermediate CRAM when input is BAM
  • STR content generation failing due to forward slash in disease name in variant_catalog_hg38.json
  • Report name for the read alignment statistics now follows the pattern [sample_name].wf-human-alignment-report.html