P6 validated against GTCtoVCF too: zero unexplained genotype differences
- 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
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@@ -16,8 +16,13 @@ Phase **P5 (QC)** is complete: control-probe metrics, thresholds/profiles, two-a
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KING-robust relatedness, Mendelian errors, locus summary and a self-contained HTML report (`simurg qc report`). On 2141
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1000 Genomes samples all 717 pedigree parent–offspring pairs are recovered and trio Mendelian error rates are ~0.03 %
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(`docs/validation/P5.md`).
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Phase **P6 (outputs)** is complete: `simurg gtc-to-vcf` (plus-strand harmonisation with audit, merged multi-probe
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sites, per-sample VCF.gz + tabix or a cohort BCF + CSI) and `simurg export plink|bedgraph|finalreport|locus-summary`.
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On the GSA demo, genotypes match gtc2vcf and GTCtoVCF with zero unexplained differences and PLINK files match plink2
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(`docs/validation/P6.md`).
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Available commands: `simurg version`, `simurg inspect <files…> [--json]`, `simurg ingest`, `simurg normalize`, `simurg genotype`,
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`simurg qc controls|samples|contamination|relatedness|loci|report|suggest-thresholds`.
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`simurg qc controls|samples|contamination|relatedness|loci|report|suggest-thresholds`, `simurg gtc-to-vcf`,
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`simurg export plink|bedgraph|finalreport|locus-summary`.
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## Quick start
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@@ -28,6 +33,8 @@ bash scripts/bootstrap_refs.sh # reference open-source repos → refs
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bash scripts/fetch_data.sh p0 # ~1.4 GB of public test data → data/
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bash scripts/make_oracle_gtcs.sh # builds gtc2vcf, writes oracle GTCs
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bash scripts/make_oracle_qc.sh # locus-summary oracle (BeadArrayFiles, separate venv)
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bash scripts/fetch_data.sh p6 # GRCh38 FASTA (~0.9 GB download, 3.1 GB unpacked)
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bash scripts/make_oracle_vcf.sh # gtc2vcf oracle VCF for the P6 tests
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uv run pytest tests/oracle # real-data acceptance tests (add -m "not slow" to skip the long ones)
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uv run simurg inspect data/p0/gsa_v4_pgx/idats_Demo_36/idats_Demo_36/207895980019/207895980019_R03C01_Grn.idat
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```
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