hydra-genetics v0.5.0
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)