Skip to content

purple v3.2

Compare
Choose a tag to compare
@charlesshale 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