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purple v4.4

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@hmftools-release-bot hmftools-release-bot released this 08 Jun 21:28
· 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