kemal
a7a235beb5
All 2141 vendor-written GTC v3 files match BeadArrayFiles field by field and re-encode byte-identically; all IDAT pairs parse; the 2.45M-locus BPM, dbv-7 EGT and CSV manifest agree with BeadArrayFiles and each other. Run on a self-destructing AWS spot instance (42 min, ~$0.20).
72 lines
4.7 KiB
Markdown
72 lines
4.7 KiB
Markdown
# Phase P0/P1 validation report
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Date: 2026-09-27 · Machine: Raspberry Pi 5 (aarch64, 4 cores, 8 GB) · Python 3.13, NumPy 2.2.
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Commands: `pytest tests/unit` (every CI run), `pytest tests/oracle -m "not slow"` and `-m slow` (needs
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`scripts/fetch_data.sh p0`, `scripts/bootstrap_refs.sh`, `scripts/make_oracle_gtcs.sh`).
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## Scope delivered
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| Plan §18 P1 item | Module | Status |
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|---|---|---|
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| Little-endian binary + .NET string codec | `formats/binutil.py` | done |
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| IDAT v3 reader (gzip, metadata, RunInfo → ISO date, encrypted detection) | `formats/idat.py` | done |
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| BPM reader (v3–5, locus entries v4/6/7/8, norm-bin rule incl. mod-256 wrap) | `formats/bpm.py` | done |
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| CSV manifest reader + BPM↔CSV consistency (IN-042) | `formats/csv_manifest.py` | done |
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| EGT reader (data-block variants, count cross-check) | `formats/egt.py` | done |
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| GTC v3–v5 reader and writer (layout-preserving) | `formats/gtc.py` | done |
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| Sample sheet (IN-001 … IN-014) | `formats/samplesheet.py` | done |
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| IDAT discovery, pairing, duplicates, input-set rule (IN-020 … IN-022, CLI-006) | `formats/discovery.py` | done |
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| Message catalogue, exit codes, JSON logging, rate limiting | `core/errors.py`, `core/log.py` | done |
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| Atomic writes, overwrite policy, run manifest | `core/atomic.py`, `core/provenance.py` | done (used from P4 on) |
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| `simurg version`, `simurg inspect [--json]` | `cli/main.py` | done |
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| Synthetic IDAT/BPM/EGT writers for tests | `synth/files.py` | done |
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## Acceptance results (plan §18 P1 gate)
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| Criterion | Data | Result |
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|---|---|---|
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| GTC fields equal to BeadArrayFiles (23 fields incl. raw X/Y, genotypes, scores, BAF, LRR, base calls, sample stats, percentiles, 48 normalization transforms) | 18 GSA v4 GTCs from gtc2vcf `idat2gtc` (preset: Array Analysis CLI) | **EXACT, 18/18** |
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| GTC read → write byte-identical | same 18 files; synthetic v3/v5 incl. non-canonical layouts; 25 random property cases | **EXACT** |
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| BPM equal to BeadArrayFiles (names, SNP, Chr, MapInfo, AddressA, assay type, normalization lookups, RefStrand, manifest name, control config) | GSA v4 PGx BPM (683 054 loci) | **EXACT** |
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| EGT equal to BeadArrayFiles (N, θ/R mean/SD ×3, intensity threshold, GenTrain score, cluster separation, address) | GSA v4 (683 054 records) and GDA v1 (1 904 599 records), ~5 000 evenly spaced records each | **EXACT** |
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| BPM ↔ CSV consistency (IN-042: names, counts, Chr, MapInfo, SNP, AddressA/B) | GSA v4 | **0 differences** |
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| All IDATs parse and pair; Red/Grn address sets equal; same address set on every chip | 72 GSA IDATs (36 samples, 2 chips) | **pass** |
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| Manifest addresses present in IDATs | GSA v4 | **100 %** |
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| Bioconductor fixtures: 381 079 / 622 399 addresses (plain + gzip); 2 encrypted files → `E_IDAT_ENCRYPTED` | IlluminaDataTestFiles 1.50.0 | **pass** |
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| Malformed inputs never raise uncaught exceptions (truncation, bad magic, bad TOC offsets, bad string lengths, duplicates) | synthetic matrix (EDGE-002, EDGE-004) | **pass** |
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| Sample-sheet matrix EDGE-007 (27 cases) incl. 10 000 rows < 2 s (PERF-007) | synthetic | **pass** |
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| Locale independence of `inspect --json` (C, tr_TR, de_DE) | synthetic | **pass** |
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## Large-scale run: 1000 Genomes Omni2.5 (AWS, 2026-09-27)
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Self-destructing spot instance (`scripts/cloud/trial.sh`, m7g.4xlarge, 16 vCPU), run `run-20260927T183712Z`,
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summary in `P1_omni2141_summary.json`. 107 GB archive streamed from `s3://1000genomes` (extracted 170 GB) in
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22 min; validation 18 min; instance lifetime 42 min; cost ≈ $0.20.
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| Criterion | Result |
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| 2141 **vendor-written** GTCs (v3, AutoCall 1.6.2.2): every field equal to BeadArrayFiles | **2141/2141 EXACT** |
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| Same GTCs: read → write byte-identical | **2141/2141** |
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| 2141 IDAT pairs (BeadChip 4x10) parse and pair; MidBlock int32 | **2141/2141** |
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| BPM HumanOmni2.5-4v1-Multi_B (2 450 000 loci, 51 normalization bins) vs BeadArrayFiles | **EXACT** |
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| EGT (data block v7, 2 450 000 records) vs BeadArrayFiles: all θ/R means and SDs, N | **0 mismatches** |
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| BPM ↔ CSV consistency | **0 differences** |
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| GTC transforms per sample = BPM bins (51) | **pass** |
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## Performance on the Pi (single thread, pure Python/NumPy)
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| Operation | Time | Peak RSS |
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| IDAT read (734 656 addresses) | 3 ms | – |
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| GTC read (683 054 loci) | 34 ms | – |
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| EGT read GSA / GDA | 2.2 s / 6.1 s | – |
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| CSV manifest read GSA | 12.5 s | 713 MB |
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| BPM read GSA | 17.8 s | 665 MB |
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BPM/CSV parsing is the only slow step; it is a one-off per run and moves to Rust in P9 (or is cached).
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## Not yet covered (needs the larger machine / later phases)
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- GEO sweep of 254 genotyping IDAT series (other chip generations, IDAT variants) — still open.
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- IN-027 (IDAT ↔ manifest coverage gate) is P2; the coverage computation is already exercised by a test.
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