kemal fcc1f6c3e3 P4 (WIP): GenCall-equivalent calling, BAF/LRR, sex, GTC v5, simurg genotype
- 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)
2026-09-28 00:07:37 +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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