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hydra-genetics v0.5.0

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@github-actions github-actions released this 21 Apr 08:12
b2bbf59

Release notes

For more details on features and bug fixes see further down.

Features

CNV

  • The CNV.hmtl report now reports TC content
  • The CNV.hmtl report now reports VAF values in the variant table
  • The CNV.tsv report now also includes deletions called by the small deletions caller

TMB

  • Improved TMB-calculations. Finds more true variants and have better correlation compared to TSO500. Does not use any panel of normals anymore making the calculations more independent on sequencing platform.

DNA fusions

  • Added DNA fusion calling using Fuseq-WES with superior results compared to GeneFuse
  • GeneFuse: Added filtering of the ERG gene

RNA exon skipping

  • Only report MET exon 14 skipping and EGFRvIII and not other potential skipping events in these genes

Bugfixes

  • Copy .bai file with timestamp instead of creating it so that it is not removed by snakemake

Changes in config.yaml

  • TMB: new and updated config options for tmb rule
  • FuseqWES: Added config for fuseq_wes rule
  • FuseqWES filtering: Added config for filter_fuseq_wes rule

Hydra modules with releases

  • prealignment: v1.0.0 (No change)
  • alignment: v0.3.1 (No change)
  • snv_indels: v0.3.0 (No change)
  • annotation: v0.3.0 (No change)
  • filtering: v0.1.0 (No change)
  • qc: v0.3.0 (No change)
  • biomarker: v0.3.0 (TMB updated with more config options)
  • cnv_sv: v0.3.1 (No change)