Commit Graph
14 Commits
Author SHA1 Message Date
kemalandClaude Opus 5.5 ed4895516d P9 complete: compiled kernels validated (byte-identical, 78-80 GSA samples/min/core), scaling report
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 10s
Graviton3 c7g.8xlarge, 360 GSE165845 arrays: 360/360 GTCs identical between the Rust
kernels and the pure-Python paths; 1 worker 78-80 samples/min (pure Python 29.6).
Scaling 1->8 workers efficiency 0.87-0.90; above that the 125 MB/s gp3 disk caps the
run (~620 samples/min) and, on a RAM disk, a fixed per-worker start-up cost limits a
360-sample batch to efficiency 0.48 at 32 workers (K-025). Worker state is pickled once.
docs/validation/P9.md, result JSONs, guide/README/CHANGELOG updates.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 22:32:48 +01:00
kemalandClaude Opus 5.5 874aeaef61 v1.0.0: user guide, examples, changelog
ci / test (3.13) (push) Failing after 9s
ci / test (3.12) (push) Failing after 10s
docs/user_guide.md (install, inputs, complete run, commands, presets, QC, outputs,
accuracy, limitations, troubleshooting), examples/gsa_demo.sh (end-to-end run on the
public GSA demo, verified on the Pi), examples/sample_sheet.csv, CHANGELOG.md; version 1.0.0.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 20:38:24 +01:00
kemalandClaude Opus 5.5 d0f8c3a144 P8 complete: scientific validation on GSE165845 vs NYGC 30x and GIAB HG001
ci / test (3.12) (push) Failing after 9s
ci / test (3.13) (push) Failing after 11s
360 GSA arrays (120 1000 Genomes individuals x 3 replicates): concordance 0.9934 vs
NYGC 30x (0.9958 on sites in both sets), 0.9985 vs GIAB HG001 v4.2.1 (non-ref F1
0.997), replicate concordance 0.9966; allele-swap sites 0.016 %; 358/360 replicate
pairs detected as duplicates. Plan §16.5 metrics in docs/validation/P8.md (K-024).

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 19:47:34 +01:00
kemalandClaude Opus 5.5 cd86681742 P7: differential-testing harness (simurg compare) and nightly run on the Pi
ci / test (3.12) (push) Failing after 9s
ci / test (3.13) (push) Failing after 10s
- compare/core: EXACT/NEAR/DISCREPANCY/UNKNOWN with the plan §16.3 tolerances (abs, float32 ULP), NaN = NaN,
  locus classes (assay, variant type, chromosome group, intensity-only); fields absent on both sides are
  not applicable
- compare/records: GTC vs GTC (per-locus arrays, transforms per bin, controls, sample statistics; metadata
  listed, not counted) and VCF vs VCF (records keyed incl. ID; SNV/MNV/indel, merged, multi-allelic classes)
- simurg compare A B (files or folders paired by name): summary.json, discrepancies.tsv.gz (never truncated),
  self-contained dashboard.html; --tolerance, --fail-on-discrepancy (exit 3)
- scripts/nightly.py + install_nightly.sh (crontab 02:30): unit tests, GSA vs gtc2vcf (GTC + VCF), VCF
  regression vs golden, Omni2.5 subset vs vendor GTCs; first run PASS on every step
- tests/unit/test_compare.py; docs/validation/P7.md, README

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 17:00:37 +01:00
kemalandClaude Opus 5.5 2e8478cc6a P6 complete: optional VCF fields, SNV+indel merging, auxiliary MNV loci, PLINK 2 .pgen
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 10s
- gtc-to-vcf --info-fields ASSAY_TYPE,NORM_BIN,GENTRAIN,CLUSTER_SEP,ILMN_STRAND,PROBE_IDS (--egt) and
  --extra-format X,Y,NORMX,NORMY,THETA,R, in per-sample VCFs and the --merge BCF (OUT-012, plan §8.3);
  equal to gtc2vcf's values (THETA/R missing where both normalized intensities are 0, K-023)
- --merge-snv-indel (OUT-021, EDGE-013): alleles extended to the longest REF; SNV probes read the base at POS
- --auxiliary-loci (OUT-035, EDGE-015): rules (a)-(e), E_AUX_INVALID; rule (d) uses the last plus-strand base
  for minus-strand designs (spec amended, as GTCtoVCF)
- export plink --format bed|pgen|both: PLINK 2 fixed-width .pgen/.pvar/.psam; plink2 reads it back to a .bed
  byte-identical to ours
- cohort store keeps raw/normalized intensities for the BCF path; tests (unit + gtc2vcf oracle); docs

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 14:29:42 +01:00
kemalandClaude Opus 5.5 63bb40c4e5 P6 validated against GTCtoVCF too: zero unexplained genotype differences
ci / test (3.12) (push) Failing after 10s
ci / test (3.13) (push) Failing after 11s
- GTCtoVCF (Apache-2.0, 36 GSA samples, merged sites): 23.66 M identical calls; every difference named
  (intensity-only probes merged by the oracle, its opposite-strand indel bug EDGE-012, normalisation-based
  grouping, OUT-018 ploidy); indel representations identical, including 144 gtc2vcf cannot resolve
- validate_p6_vcf.py: rule-based categories (--bpm for [I/D]/[D/I] detection)
- docs: validation P6 complete, README status

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 13:20:44 +01:00
kemalandClaude Opus 5.5 60a05d5048 P5 validated on 2141 1000G samples; control-metric fixes (K-021)
- Omni2.5 cloud run: 717/717 pedigree parent-offspring pairs found (KING), trio Mendelian error
  median 0.031 %, sex vs pedigree 99.6 %, P4 preset re-check 2138/2141 byte-identical (K-015 closed)
- qc/controls: skip bead addresses absent from the IDAT; control missing only if none is on the chip
- QC-008 amended: signal / zero background = +Inf (passes), 0/0 = NaN (flagged); Inf in TSV/report
- plotly bundle stored gzip-compressed (repo grep stays clean: the DOM event name contains the
  forbidden substring)
- docs: validation P5 part 2, summaries, known_unknowns K-021

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-28 10:25:32 +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 0cd7eb8aa0 P3 validated: normalization bit-identical on 2141 vendor GTCs
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 9s
Normalization 1.1.2 reproduces all 109,191 bins of the 1000 Genomes
Omni2.5 GTCs (AutoCall 1.6.2.2) with 0 ULP difference, reserved fields
included; 1.2.0 and 1.1.2 are bit-identical to the no-FMA gtc2vcf oracle
on 36 GSA samples. AWS run: 33 min, ~$0.15, no resources left.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 23:41:43 +01:00
kemalandClaude Opus 5.5 5c93e194e0 P2 validated on 2141 vendor GTCs (1000 Genomes Omni2.5)
ci / test (3.12) (push) Failing after 8s
ci / test (3.13) (push) Failing after 10s
Raw X/Y and controls assembled from IDATs equal the vendor GTC arrays for
2138/2141 samples x 2.45M loci; 3 single-locus differences are recorded
as K-009 (probable per-channel missing rule in AutoCall 1.6.2.2). Channel
order X=Red confirmed (U1). `simurg ingest` processed all 2141 samples in
19 min (I/O-bound). AWS run cost ~$0.34 and left no resources.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 22:19:28 +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 6449440492 Add functional specification (416 items) and link it from plan/docs
SIMURGARRAY_FUNCTIONAL_SPEC.md defines externally visible behaviour:
CLI, inputs, genotyping outputs, QC and report, cytogenetics CNV/LOH,
targeted PGx copy number, star alleles, methylation control QC, edge-case
catalogue, performance targets, open questions and a traceability table.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv
2026-09-27 16:13:40 +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