Commit Graph
2 Commits
Author SHA1 Message Date
kemal 1eb7ea8154 ArrayTrain: BIC-selected unbounded θ mixtures + HWE-guided labelling
Fixed θ windows mislabelled compressed/asymmetric loci (2-cluster loci: 1418 vs
186 errors). Now 1/2/3-component mixtures chosen by BIC, labelled by HWE
goodness of fit plus weak position and gap priors, split clusters merged.
GSE165845 chr22 vs 1000G 30x (240 arrays): concordance 99.44 % (v1 99.27 %,
vendor EGT 99.46 %), NRD 1.30 % (1.89 %, 1.23 %), call rate 99.61 %.
docs/validation/V2_arraytrain.md, K-030; plan §12, CLI-038.
2026-09-29 22:40:19 +01:00
kemal 7cfb0fd962 ArrayTrain (plan §12): simurg train — EGT cluster files from a cohort's GTCs
- simurg/train/clusters.py: vectorised per-locus θ mixture (AA/AB/BB + outlier component, θ-ordered bounds),
  cluster selection and merging, lone clusters homozygous, missing clusters imputed by cross-locus regression
  per assay type, cluster_sep and train (GenTrain-field) scores.
- formats/egt.py: write_egt (EGT v3, data block 9, round-trips through the reader).
- pipeline/train.py: normalised θ/R from GTC raw X/Y + transforms, sex-aware (X females, Y males, MT haploid),
  intensity-only loci as one R cluster.
- scripts/train/concordance_chr.py: array vs 1000G 30x on one chromosome.
Demo (36 GSA v4 PGx arrays, chr22 vs 1000G): trained 99.29 % / NRD 2.6 % vs vendor EGT 99.57 % / 1.55 %.
2026-09-29 19:53:53 +01:00