kemal/SimurgArray

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kemalandClaude Opus 5.5 874aeaef61

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v1.0.0: user guide, examples, changelog

docs/user_guide.md (install, inputs, complete run, commands, presets, QC, outputs,
accuracy, limitations, troubleshooting), examples/gsa_demo.sh (end-to-end run on the
public GSA demo, verified on the Pi), examples/sample_sheet.csv, CHANGELOG.md; version 1.0.0.

Co-Authored-By: Claude Opus 5.5 <[email protected]>
Claude-Session: https://claude.ai/code/session_01814GKVzZVL3FuF3DeiZXhv

2026-09-28 20:38:24 +01:00

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Examples

File	What it shows
`gsa_demo.sh`	End-to-end run on the public 36-sample GSA v4 PGx demo: `genotype` (GTC + QC) → `qc report` → `gtc-to-vcf` (per-sample VCF and cohort BCF) → `export plink/bedgraph/finalreport` → `compare`. Needs `scripts/fetch_data.sh p0` and `p6`. `bash examples/gsa_demo.sh results/gsa_demo 6` runs on the first 6 samples only.
`sample_sheet.csv`	Sample-sheet layout: key columns `SentrixBarcode_A`/`SentrixPosition_A`, reported sex, trio (`Parent1`/`Parent2`, used for Mendel errors), a replicate, and a free column (`Batch`) that is carried into the QC table. The sample identities in it are illustrative, not the real demo samples.

The QC threshold profiles shipped with SimurgArray (src/simurg/qc/profiles/*.yaml) are the starting point for a --qc-config file; simurg qc suggest-thresholds derives cohort-specific values. See docs/user_guide.md.

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