Commit Graph
13 Commits
Author SHA1 Message Date
kemalandClaude Opus 5.5 df41569f64 P6: gtc-to-vcf (VCF/BCF + indexes), harmonisation, exports (plink, bedgraph, finalreport)
ci / test (3.12) (push) Failing after 10s
ci / test (3.13) (push) Failing after 12s
- formats/fasta: plain/BGZF FASTA, .fai/.gzi built identical to htslib, index check, build detection,
  contig aliases, mmap genome cache (IN-060..064)
- formats/bgzf, formats/bcf: pure-Python BGZF, tabix .tbi, BCF 2.2 and CSI (OUT-010, OUT-038, OUT-040)
- harmonize/sites: plus-strand mapping with audit rows, indel resolution from SourceSeq (port of GTCtoVCF,
  Apache-2.0) and left normalisation (OUT-014..021, OUT-030, OUT-042)
- harmonize/combine: OUT-031 genotype combination (ploidy-aware, Infinium I/II signal classes, OUT-037)
- pipeline/vcf: `simurg gtc-to-vcf` (per-sample VCF.gz+tbi, --merge cohort BCF+csi, audit parquet)
- pipeline/export: `simurg export bedgraph|finalreport|plink|locus-summary` (OUT-043, OUT-050..052, OUT-071)
- validation: 36 GSA samples vs gtc2vcf: 23.66 M identical calls, 0 unexplained differences; PLINK identical
  to plink2 on 637,397 variants; bcftools validates VCF/BCF and our indexes answer region queries correctly
- fetch_data.sh p6 (Ensembl GRCh38 with checksum), make_oracle_vcf.sh, validate_p6_vcf.py; K-022/K-023

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 12:17:53 +01:00
kemalandClaude Opus 5.5 56d250c621 P5: cloud task for cohort QC validation; configurable gp3 throughput; batched contamination map
ci / test (3.12) (push) Failing after 9s
ci / test (3.13) (push) Failing after 10s
- scripts/cloud/tasks/p5.sh: P4 preset re-check, genotype (v5) with QC, validate_p5_large.py
- scripts/validate_p5_large.py: identify samples via het pattern vs 1000G VCF; sex, parent-offspring,
  Mendel, contamination/control distributions
- trial.sh: DISK_MBPS / DISK_IOPS
- qc/contamination: bounded map batches (executor.map submits eagerly)

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 09:10:02 +01:00
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 eb19ac7f91 P4: unit tests for calling/BAF/LRR/sex/CLI; vendor validation script
ci / test (3.12) (push) Failing after 9s
ci / test (3.13) (push) Failing after 9s
- tests/unit/test_genotype.py: fuzzy memberships incl. NaN rules, calls
  at cluster centres, intensity threshold, BAF/LRR interpolation and
  NaN pattern, LogR-dev locus set, sex rules v1/v2, TOP-strand base
  calls, invariant dates, end-to-end `simurg genotype` (summary schema,
  pass-through columns, thread/layout determinism, overwrite refusal)
- tests/oracle/test_p4_genotype.py: 36 GSA samples x 2 versions
  byte-identical to the oracle
- scripts/validate_p4_large.py + cloud task p4: compare every vendor
  GTC field by field and as whole files; reports which sex rule matches

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 00:10:47 +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 2e75345a30 P2 validation: oracle test and large-scale raw X/Y check
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 10s
- tests/oracle/test_p2_raw_xy.py: IDAT-assembled raw X/Y and controls
  equal the arrays in oracle GTCs
- validate_p1_large.py: phase-P2 comparison against vendor GTCs with
  diagnostics (channel swap, bead-count disagreements)
- cloud trial: also runs `simurg ingest` on all samples (time/memory),
  disk 250 GB

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 20:57:42 +01:00
kemalandClaude Opus 5.5 f52313fc93 cloud trial: set HOME/PATH for cloud-init, unit tests non-fatal
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 10s
The first run stopped after 1 minute (HOME unbound under set -u) and
terminated itself as designed.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 19:36:49 +01:00
kemalandClaude Opus 5.5 150650424c Lint fixes in validate_p1_large.py
ci / test (3.12) (push) Failing after 10s
ci / test (3.13) (push) Failing after 12s
Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 19:30:37 +01:00
kemalandClaude Opus 5.5 a9aa6dc080 Add self-destructing AWS trial and large-scale P1 validation script
ci / test (3.12) (push) Failing after 9s
ci / test (3.13) (push) Failing after 13s
scripts/cloud/trial.sh launches one spot instance that validates the
parsers on the 1000 Genomes Omni2.5 set (2141 samples, vendor GTCs)
streamed from the public S3 bucket, uploads the summary and terminates
itself. Cost guards: spot price cap, hard time limit (shutdown =
terminate), EXIT-trap shutdown, CloudWatch idle alarm that terminates
from outside, disk deleted with the instance, monthly budget alert, and
an `audit` command listing anything still billable.

scripts/validate_p1_large.py compares every GTC with BeadArrayFiles,
checks byte-identical round-trips, IDAT pairs and BPM/EGT/CSV.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 19:30:27 +01:00
kemalandClaude Opus 5.5 f10c651f0f P0: project setup (packaging, CI, licences, data/oracle scripts)
- pyproject (uv/hatch, ruff, mypy strict, pytest markers), MIT LICENSE,
  THIRD_PARTY_NOTICES with verbatim BSD-2 (BeadArrayFiles) and MIT (gtc2vcf)
- CI workflow for Gitea/GitHub Actions: lint, type check, unit tests
- fetch_data.sh p0 now fetches the GSA v4 PGx demo IDATs (the GDA "Demo 36"
  bundle is a GenomeStudio project), unpacks archives, fixes pipefail bug
- make_oracle_gtcs.sh builds bcftools + gtc2vcf and writes oracle GTCs
- plan §17: corrected P0 dataset table

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
kemalandClaude Opus 5.5 ee4ebaaa1e SimurgArray: master plan, repo scaffolding and data/ref fetch scripts
Phase 0 deliverables: full technical specification and roadmap
(SIMURGARRAY_MASTER_PLAN.md), CLAUDE.md, bootstrap script for reference
open-source repos and tiered dataset fetch script with checksums.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 15:20:06 +01:00