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Releases: leahkemp/pipeface

v0.7.0

16 Apr 03:39
d0248f4
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What's Changed

New features

  • Haploid aware mode thanks to Kirat Alreja @kiratalreja3 !
  • Output SNP/indel GVCF files for greater flexibility with downstream population analyses

Other changes

  • Use environmental modules for mosdepth and pb-CpG-tools instead of requiring the user to define their binaries in parameters_pipeface.json
  • Add zero genotypes in jasmine as default (thanks to the feedback from Jimmy Chiu @jimmykhchiu !)
  • Drop gnomad/clinvar SV annotation (thanks to the feedback from Andre Reis @almreis !)
  • Add platform specific settings for jasmine (thanks to the feedback from Andre Reis @almreis !)
  • Tag sample ID in the read group info in bam headers during minimap. In turn this removes the need to tag bams with this information in the DeepTrio step, which will help reduce the size of the work directory in cohort mode (thanks to feedback from Edward Formaini @EddieLF !)
  • Improvements to documentation
  • Improvements to code formatting
  • Improvement to user input error checks (thanks to the feedback from Monique Dunstan @moniquedunstan !)

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v0.6.2

31 Mar 22:47
1037ece
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What's Changed

Bug fixes

  • Remove calling of SV's in regions of interest only. Fixes #45

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v0.6.1

08 Mar 19:02
a2b2101
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What's Changed

New features

  • Publish individual SNP/indel and SV VCF's in cohort/deeptrio mode

Bug fixes

  • Fix sort of joint jasmine SV VCF, which affected the VCF header (order of VCF header and caused overwrite of jasmine INFO tags during downstream annotation)
  • Strip prefixes jamines appends to sample ID's in joint SV VCF files

Other changes

  • Add 'jasmine' in the joint SV VCF filename for clarity that it's a joint VCF
  • Add more walltime for joint phase

Full breakdown

v0.6.0

27 Feb 23:11
af30604
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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

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v0.5.0

24 Jan 02:18
da13d27
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What's Changed

New features

Other changes

  • Minor changes to documentation

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v0.4.2

09 Jan 01:00
95bbfc4
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What's Changed

New features

  • Handle input SV VCF as a pipeline input (secret sauce/undocumented option)

Other changes

  • Handle creating dummy NONE file for optional pipeface inputs within pipeline which enables running pipeline from remote directories
  • Minor changes to formatting of reported in_data format in pipeface_settings.txt files
  • Minor changes to documentation
  • Minor changes to code comments
  • Minor changes to error messages
  • Fix input tuples for vep_sniffles_sv and vep_cutesv_sv processes

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v0.4.1

06 Jan 22:02
bb48d33
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What's Changed

Bug fixes

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v0.4.0

20 Dec 00:20
72ce58a
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What's Changed

New features:

  • Change output directory structure to align with internal needs and in preparation for adding cohort analysis

Other changes:

  • Simplify input/output tuples throughout the pipeline
  • Other minor modifications to formatting/syntax/grammar

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v0.3.0

10 Dec 20:35
67e42fc
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What's Changed

New features:

  • Structural variant annotation (hg38 only)

Other changes:

  • Set the minimum length of SV's during variant calling to 50
  • Minor changes to documentation

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v0.2.1

02 Dec 23:02
12d8e9b
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What's Changed

Changes

  • Optimise DeepVariant

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