Commit Graph
7 Commits
Author SHA1 Message Date
kemalandClaude Opus 5.5 0c004f6398 P5a: QC — control metrics, thresholds, status, contamination, relatedness, locus summary
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 11s
- qc/controls: canonical control names (QC-002), bkg/offset (QC-003), 13 genotyping metrics (QC-004/005),
  missing/zero-divisor handling (QC-007/008); controls_raw.tsv / controls_qc.tsv (QC-009/011) incl. compat CSVs
- qc/thresholds + profiles: YAML schema, validation codes, precedence, shipped profiles, auto (QC-020..025)
- qc/status: functional PASS/FAIL/NA, control CLEAR/FLAGGED, flags (QC-030..033)
- qc/contamination: BAF regression; bit-compatible with gtc2vcf BAFregress (36/36, K-017), exact mode too
- qc/relatedness: KING-robust, duplicates, Mendelian errors, pedigree from sheet (IN-018)
- qc/locus_summary: OUT-072, bit-identical to BeadArrayFiles except ChiTest (K-018)
- qc/suggest: suggest-thresholds (QC-026)
- pipeline/qc: disk-backed cohort store; CLI qc controls|samples|contamination|relatedness|loci|suggest-thresholds
- genotype: control tables (OUT-070), het_rate, QC columns, cohort QC
- tests: unit + oracle (BAFregress plugin, BeadArrayFiles locus summary)

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 08:35:10 +01:00
kemalandClaude Opus 5.5 8b1e5d8dab P4 validated on 2141 vendor GTCs; legacy AutoCall 1.6.2 preset
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 9s
- vendor comparison (1000 Genomes Omni2.5, AutoCall 1.6.2.2): every
  computed field identical in 2138/2141 samples; the 3 others trace back
  to the single-locus raw-intensity rule (K-009); sex rule 1 matches all
- AutoCall 1.6.2.x leaves GC10/GC50/#calls/#no-calls at 0 in GTC v3:
  new `--preset autocall-1.6.2` (1.1.2 normalization, sex rule 1, GTC v3,
  legacy statistics); the sample summary keeps the real statistics
- NaN sign canonicalised to the x86 pattern (K-014); report P4.md

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 01:21:49 +01:00
kemalandClaude Opus 5.5 febdd121ef P4 (WIP): GenCall-equivalent calling, BAF/LRR, sex, GTC v5, simurg genotype
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 10s
- genotype/clusters.py: EGT aligned to manifest order (float32 mean R)
- genotype/gencall.py: flair, six-case likelihood, priors/posteriors,
  fuzzy sub-scores and score map, vectorised with the reference's
  float/double evaluation order and libm transcendentals
- genotype/baf_lrr.py, sex.py (rules v1/v2), sample.py (IDAT -> Gtc)
- pipeline/inputs.py shared by ingest and genotype
- pipeline/genotype.py + CLI: GTC per sample, sample_summary.tsv/json
  (OUT-060..063), run manifest
- GTCs from IDATs are byte-identical to the oracle for 36 GSA samples x
  2 normalization versions (NaN sign canonicalised to the x86 pattern)

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 00:07:37 +01:00
kemalandClaude Opus 5.5 268457ba8e P3: vectorised nearest-neighbour search; task-driven cloud trials
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 10s
- fit.py: exact and binned nearest-neighbour searches use one distance
  matrix per searched bin (first-minimum rule kept); fit 2.6 s -> 1.4 s
  per GSA sample, still bit-identical to the oracle
- scripts/validate_p3_large.py: refits 1.2.0 and 1.1.2 transforms for
  every vendor GTC and reports ULP distances per field
- cloud trial runs scripts/cloud/tasks/<TASK>.sh (TASK=p3 default;
  p1p2 = previous validation + ingest)

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 22:57:03 +01:00
kemalandClaude Opus 5.5 314fdc40d1 P3: normalization fit (1.2.0 and 1.1.2), apply, polar, simurg normalize
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 10s
- signal/normalization/numerics.py: vendor percentile, trimmean, MAD sigma
  (old/new), bisquare robust fits, float32/float64 typing and sequential
  sums reproduced exactly (ported from gtc2vcf, MIT)
- signal/normalization/fit.py: outlier removal, offset, rotation, shear,
  scale, nn12/rr12, single-channel model for small Infinium I bins,
  exact and binned nearest-neighbour sweeps; vendor quirks marked QUIRK
- signal/normalization/apply.py: affine transform and theta/R
- pipeline/normalize.py + CLI `simurg normalize`
- oracle GTCs rebuilt with -ffp-contract=off (aarch64 gcc fuses a*b+c by
  default, shifting the last bits); the old FMA oracle differed by <=4 ULP

Result: transforms bit-identical to the oracle for all 36 GSA samples x
48 bins, for both normalization versions (3456/3456 bins, 0 ULP).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 22:51:06 +01:00
kemalandClaude Opus 5.5 a4faead6d7 P2 (WIP): raw X/Y assembly, canonical Parquet model, simurg ingest
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 10s
- signal/raw_xy.py: vectorised Infinium I/II raw X/Y and control assembly
  (plan §7.1) with a per-chip address-map cache; IN-027 coverage gate
- core/schemas.py: Arrow schemas (loci, sample_intensity, controls),
  deterministic atomic Parquet writing
- pipeline/ingest.py + CLI: discovery, sheet, IN-010 naming, overwrite
  check before any work, spawn-based workers, per-sample isolation,
  --resume by input hashes, run manifest, exit codes 0/3/4
- matches gtc2vcf raw X/Y and controls exactly on 18 GSA samples;
  outputs byte-identical across thread counts and layouts

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 20:54:06 +01:00
kemalandClaude Opus 5.5 4357d3deef P1: file parsers, sample sheet, discovery, CLI inspect
ci / test (3.12) (push) Failing after 11s
ci / test (3.13) (push) Failing after 12s
Readers for IDAT v3, BPM (locus entries v4-v8), CSV manifest, EGT
(data blocks 5-9) and GTC v3-v5 (plus a layout-preserving GTC writer);
sample-sheet validation (IN-001..IN-014), IDAT discovery and pairing
(IN-020..IN-022), message catalogue and exit codes (CLI-014/016),
JSON Lines logging (CLI-007/008), atomic writes (CLI-011), run manifest,
and `simurg inspect`.

Validation (docs/validation/P1.md): GTC, BPM and EGT readers agree
exactly with Illumina BeadArrayFiles on GSA v4 / GDA v1 files; GTCs
round-trip byte-identically; BPM and CSV manifests are consistent.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 16:56:39 +01:00