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Releases: epi2me-labs/wf-human-variation

v0.3.0

05 Oct 17:16
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Added

  • Experimental guppy subworkflow
    • We do not provide a Docker container for Guppy at this time, users will need to override process.withLabel:wf_guppy.container

Changed

  • --ubam option removed, users can now pass unaligned or aligned BAM (or CRAM) to --bam
    • If the input BAM is aligned and the provided --ref does not match the SQ lines (exact match to name and size) the file will be realigned to --ref
    • If the input CRAM is aligned and the provided --ref does not match the SQ lines (exact match to name and size) the file will be realigned to --ref, but will also require the old reference to be provided with --old_ref to avoid reference lookups
    • If the input is not aligned, the file will be aligned to --ref

Fixed

  • Chunks without variants will no longer terminate the workflow at the create_candidates step

v0.2.2

22 Sep 15:45
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Fixed

  • "No such property" when using the minimap2_ubam alignment step
  • Slow performance on minimap2_ubam step when providing CRAM as --ubam
  • Slow performance on snp:readStats process

Removed

  • "Missing reference index" warning was unnecessary

v0.2.1

22 Sep 13:06
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Fixed

  • "No such property" when using the minimap2_ubam alignment step
  • Slow performance on minimap2_ubam step when providing uCRAM

Removed

  • "Missing reference index" warning was unnecessary

v0.2.0

21 Sep 15:07
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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

v0.1.1

24 Aug 13:37
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Added

  • --ubam_bam2fq_threads and --ubam_sort_threads allow finer control over the resourcing of the alignment step
    • The number of CPU required for minimap2_ubam is sum(ubam_bam2fq_threads, ubam_map_threads, ubam_sort_threads)

Changed

  • --ubam_threads is now --ubam_map_threads and only sets the threads for the mapping specifically
  • --ref is now required by the schema, preventing obscure errors when it is not provided
  • Print helpful warning if neither --snp or --sv have been specified
  • Fastqingress metadata map
  • Disable dag creation by default to suppress graphviz warning

Fixed

  • Tandem repeat BED is now correctly set by --tr_bed
  • Update fastcat dependency to 0.4.11 to catch cases where input FASTQ cannot be read
  • Sanitize fastq intermittent null object error

Note

  • Switched to "new flavour" CI, meaning that containers are released from workflows independently

v0.1.0

13 Jul 15:07
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Added

  • Ported wf-human-snp (v0.3.2) to modules/wf-human-snp
  • Ported wf-human-sv (v0.1.0) to modules/wf-human-sv