purple v4.4
·
230 commits
to master
since this release
Functional:
- adjusted targeted TML calc
- TMB and TML raise min VAF of 0.02 -> 0.05
- targeted panels use chrX region size to determine Amber gender
- clustering only uses Amber BAF PCFs if follows another one and not at start or end of an arm
- restrict fitting hotspots to 5% VAF
- cosmetic changes to circos plot
- show driver genes on Circos plot
- use Redux MSI prediction file for panels, removed support for MSI sites file config and logic
- aneuploidy detection to impact somatic fit
- removed deleted genes logic for panels
- call germline AMPs as well as DELs
- segment around excluded IG regions
- find driver for LOH events with zero likelihood
- find drivers splice region without gene impact and zero likelihood
- added LIKELY_DIPLOID GermlineStatus for diploid percentage 0.7-0.85 and 1.15-1.3
Bugs:
- fixed driver multi-hit routine impacting biallelic status
- check depth window count and SV-bounds for germline amp-dels
- tumor-only mode use BAF fit if highly diploid and high purity if BAF within specified limits
- fixed indel colours in main Circos plot
- fix plot fail when unable to determine maxPloidy. Replace deprecated ggplot 'size' arg with 'linewidth'
- remove duplicate COHORT_AMP_DEL_FREQ_FILE constant
- segments created for excluded regions to have start segment support EXCL
Technical:
- when splitting segments by excluded regions, assign the new segment support type "EXCL" to new fragments
- dropped chimerism field from QC, fixed 2-hit DNDS logic from non-impacting variants
- removed targeted panel ratio file, replaced by optional config: target_tmb_ratio, target_tml_ratio, target_coding_factor
- in finding structural variants that match amplified regions, use orientation -1 at the start and 1 at the end
- handle cohort germline amp-del file if not sorted
Config:
- germline_del_freq_file -> germline_amp_del_freq_file
- optionally filter SVs with config: sv_qual_filter
- add redux_tumor_dir - to load MS production file for panels