Commit Graph
3 Commits
Author SHA1 Message Date
kemal a04091a701 cn_validate_truth: sensitivity by carrier frequency (rare < 5 % is the primary metric, K-027) 2026-09-29 11:57:58 +01:00
kemal de786eacf3 v2 CN: real-data validation vs NYGC 30x SVs (interim), noise gate on normalised LRR (K-027)
GSE165845 360 arrays: constitutional DEL/DUP calls 77/74 % in the NYGC SV truth, LOH
reproduced across replicates 74 %; mosaic calls are mostly false positives (12-23 %),
sensitivity for 25 kb-1 Mb events 7-13 % at QUAL >= 20. All samples had been flagged
SampleQuality by the summary logr_dev (cluster-file mismatch); the gate now uses the SD
of the LRR after the batch reference. Validation script: --ignore-filter.
2026-09-29 07:42:06 +01:00
kemal bf1ffc08a0 v2 CN: truth validation script (NYGC 30x SV freeze V3) and cloud task cnv 2026-09-29 01:39:49 +01:00