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P2 validated on 2141 vendor GTCs (1000 Genomes Omni2.5)

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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.
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kemal committed 2026-09-27 22:19:28 +01:00
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docs/known_unknowns.md
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@@ -4,6 +4,9 @@ Plan §20 lists the open questions; this file records what the implementation ha
| ID | Date | Topic | Finding | Status |
|---|---|---|---|---|
| K-011 | 2026-09-27 | Plan U1 (channel order) | Infinium II X = Red, Y = Grn confirmed on 2141 vendor GTCs (the GTC PDF's "Raw X = green" wording is wrong). | resolved |
| K-010 | 2026-09-27 | Ingest throughput | On AWS, `ingest` of 2141 Omni samples was I/O-bound (gp3 125 MB/s baseline): 18.9 min, 4 of 16 cores busy. For P9 benchmarks provision gp3 throughput or use instance-store NVMe. | open (P9) |
| K-009 | 2026-09-27 | Missing-intensity rule | 3 loci (in 3 of 2141 vendor GTCs, AutoCall 1.6.2.2) keep one channel's intensity where we zero both. Hypothesis: old AutoCall applies the NBeads ≥ 2 rule per channel. Confirm with the bead counts of 5767788121_R01C01 (rs178512), 5826354152_R02C01 (SNP12-29082770), 6268201099_R02C01 (rs17133206); if confirmed, add a `--missing-rule per-channel` compatibility option. | open |
| K-008 | 2026-09-27 | Vendor GTC layout | 2141 vendor GTC v3 files (AutoCall 1.6.2.2) re-encode byte-identically with the canonical v3 order, so the writer reproduces the vendor layout (no padding or reordering). | resolved |
| K-007 | 2026-09-27 | Demo data | The "GDA v1 Demo 36" download is a GenomeStudio project (`.bsc` + `Data/*.bin`), not IDATs. The GSA v4 PGx demo (`idats_Demo_36.zip`) is used as the P0 IDAT fixture instead. Bioconductor `hapmap370k` is no longer in the current release. | resolved (plan §17 updated) |
| K-006 | 2026-09-27 | Sample sheet | Recognised input columns (`Sample_ID`, `Sample_Name`, …) collide case-insensitively with output columns `sample_id`/`sample_name` (IN-005). Recognised columns are exempt from the reserved-name check and are passed through verbatim. | decision, revisit in P4 (OUT-060 pass-through) |