kemal 7032074bfe P4: unit tests for calling/BAF/LRR/sex/CLI; vendor validation script
- 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
2026-09-28 00:10:47 +01:00

SimurgArray

Personal research toolkit for Illumina Infinium genotyping BeadChip data (IDAT → normalization → genotype calling → BAF/LRR → QC → VCF/PLINK; later CN/LOH, PGx, cluster training).

  • SIMURGARRAY_MASTER_PLAN.md — architecture, algorithms, roadmap
  • SIMURGARRAY_FUNCTIONAL_SPEC.md — 416 itemised requirements (CLI, inputs, outputs, QC, CN, PGx, methylation, edge cases)
  • docs/validation/ — per-phase validation reports · docs/known_unknowns.md — findings log · docs/research/ — background

Status

Phases P0 (setup), P1 (file parsers), P2 (canonical model, raw X/Y) and P3 (normalization) are complete — see docs/validation/. Each is validated on 2141 vendor GTCs of the 1000 Genomes Omni2.5 set (normalization transforms bit-identical). Available commands: simurg version, simurg inspect <files…> [--json], simurg ingest, simurg normalize.

Quick start

uv venv && uv pip install -e ".[dev]"
uv run pytest tests/unit                  # no downloads needed
bash scripts/bootstrap_refs.sh            # reference open-source repos → refs/ (oracles)
bash scripts/fetch_data.sh p0             # ~1.4 GB of public test data → data/
bash scripts/make_oracle_gtcs.sh          # builds gtc2vcf, writes oracle GTCs
uv run pytest tests/oracle                # real-data acceptance tests (add -m "not slow" to skip the long ones)
uv run simurg inspect data/p0/gsa_v4_pgx/idats_Demo_36/idats_Demo_36/207895980019/207895980019_R03C01_Grn.idat

Vendor data files are downloaded for personal research use only and are never committed. See THIRD_PARTY_NOTICES.md.

S
Description
SimurgArray — personal research toolkit for Illumina Infinium genotyping arrays (IDAT→GTC→VCF, QC, CN, PGx)
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