v2.3.0
Pre-release
Pre-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 usesgm
for TP,lm
for PP, and.
for FP/FN