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v2.3.0

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@TimD1 TimD1 released this 09 Nov 18:51
· 90 commits to master since this release

Phasing analysis updates

  • added phasing threshold: superclusters are only considered phased if one phasing is an X% improvement over the other in terms of edit distance (this reduces false positive supercluster phasing flip errors that are actually variant calling errors), default 0.6
  • added phasing summary TSV (phasing-summary.tsv) that reports total flip errors, switch errors, phaseblock NG50, switch NGC50, and switchflip NGC50
  • add switchflip TSV (switchflips.tsv) that reports flip range, type, supercluster, and phase block
  • phase blocks are now computed from input phase sets, not backtracking, and per-phaseblock switch/flip errors were added to phase-blocks.tsv

Partial credit replaced with credit threshold

  • partial credit calculation is less intuitive and complicates matters more than necessary; I replaced this with a partial credit threshold where passing variants are counted as TP, default 0.7
  • I think that counting mostly-correct calls with a user-defined credit threshold is better

Runtime improvements: skip alignment distance and writing

  • alignment distance calculation is now skipped by default (I now think stratifying precision-recall curves by INDEL size may be more useful), can be turned on with -d, --distance
  • original and realigned truth/query VCFs are only written if --realign selected

Added new analyses

  • added analysis-v2 directory for upcoming paper figures

Minor fixes

  • GA4GH output VCF no longer always outputs gm: now it uses gm for TP, lm for PP, and . for FP/FN