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Release 5.0.0

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@rhpvorderman rhpvorderman released this 04 May 08:35
· 1 commit to develop since this release
  • Small changes were made to support miniwdl and miniwdl is now the recommended
    tool to run this pipeline.
  • Clever is now disabled by default for SV calling. It can be enabled by setting
    the Germline.svCalling.runClever input to true.
  • Fixed a bug in structural variant calling which led to all INV, INS and BND
    events to be deleted if duphold filtering was enabled.
  • Added a workaround for an issue with survivor's parsing of SVs detected by
    clever.
  • Updated default survivor version to 1.0.7.
  • Automatically create BWA index, faidx and sequence dictionary for reference
    fasta file if not provided. Automatically create dbsnpVCF index if not
    provided.
  • Tumor only samples (with no control) will now be analysed in the somatic
    variant calling pipeline.
  • GRIDSS results will now be included in survivor.
  • Adapters should be set by the user from now on. The default adapter
    AGATCGGAAGAG (illumina universal adapter short version) actually appears
    several times in the human genome. It is recommended to use the full adapter
    sequence instead:
    • forward reads: AGATCGGAAGAGCACACGTCTGAACTCCAGTCA
    • reverse reads: AGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGT
  • UMI deduplication is now performed using Picard
    UmiAwareMarkDuplicatesWithMateCigar. This requires FASTQ files to have the
    UMI appended to the read ID. These files can be generated by umi-tools extract.
  • Added the commonVariantSites and commonVariantSitesIndex inputs to the
    somatic worklow. This allows for a separate known variant list to be
    specified for use in CNV calling, instead of the usual dbSNP.