SIMURGARRAY_FUNCTIONAL_SPEC.md defines externally visible behaviour: CLI, inputs, genotyping outputs, QC and report, cytogenetics CNV/LOH, targeted PGx copy number, star alleles, methylation control QC, edge-case catalogue, performance targets, open questions and a traceability table.
584 B
584 B
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).
Start with SIMURGARRAY_MASTER_PLAN.md (architecture, algorithms, roadmap) and SIMURGARRAY_FUNCTIONAL_SPEC.md (416 itemised requirements: CLI, inputs, outputs, QC, CN, PGx, methylation, edge cases).
bash scripts/bootstrap_refs.sh # clone reference open-source repos into refs/
bash scripts/fetch_data.sh p0 # download small test datasets into data/