purple v3.2
charlesshale
released this
07 Dec 00:50
·
8126 commits
to master
since this release
Functional:
- increased threshold for low SNV count from 1K to 2K, rename CopyNumber PDF chart to MACN
- check for missense with splice if former reportable and latter not
- apply additional reportable transcripts from driver gene panel file
- write germline deletions to file
Bugs:
- cap hotspot VAF at 0.5 when used for somatic purity
- handle missing genotype (by sample-name) when checking allelic depth
- operate without structural variant VCFs as was previously supported
- added missing Low Tumor VCN VCF header
Gene-related
- handle alt-transcipts for drivers
- use Ensembl data cache instead of all genes TSV (config: ensembl_data_dir)
- handle multiple transcripts per gene in geneCopyNumber
- disable SnpEff annotation when Pave has been run already
Techincal:
- run drivers only (config: drivers_only) if Purple files exist from earlier run
- can run without somatic VCF
- can run without SV VCFs
- optionally use Ensembl data cache instead of built-in gene panel (config: ensembl_data_dir)
Recommended config changes:
- supply Ensembl data cache: ensembl_data_dir
- change driver_catalog to run_drivers