purple v4.1-rc.1
Pre-release
Pre-release
hmftools-release-bot
released this
25 Nov 02:22
·
41 commits
to master
since this release
Functional
- biallelic model changes
- somatic readjustment model in tumor+reference mode
- updated rules for somatic fit and no-tumor classification in tumor-only mode
- restrict somatic variant plotting to target regions only when enabled
- germline chromosomal aberrations support TRISOMY_9P and TERTRASOMY_9P
- SV recovery removed
- disable whole genome dup check for tumor-only non-normal fits
- removed VAF bounds check on hotspots for somatic fitting
- remove indel repeat count from TSG reportability check
- VAF 2% filter for tumor and MSI load
- tumor-only and targeted fits ignore diploid status, no reversion from deleted genes
- VAF threshold 35% to use non-hotspot variant in tumor-only fit
- revert germline adjusted CN change to JCN if not fitted region match found
- fixed germline deletion exon boundaries
Technical
- compatible with Esvee
- removed HRD output from standard run
- calculate target region coding base total using Ensembl instead of CODING tag from BED file
- write empty files on empty/invalid inputs
Bugs
- germline deletion avoid use of next region's min start