bio-phasing-imputation-genotype-imputation
PKU-YuanGroup/OpenAI4SImputes untyped genotypes against a phased reference panel with Beagle, Minimac4, or IMPUTE5 (array data) or from genotype likelihoods with GLIMPSE2, QUILT2,…
Scores out of 100 · grade A
2026-08-22Works
40% of the score100/100
- Loads cleanly: valid frontmatter, required fields present, no dangling references.
Maintained
25% of the score100/100
- no commits in the last 12 weeks
Adopted
20% of the score35/100
- 335 stars on the source repo.
Documented
15% of the score74/100
- No usage example or code block.
- 2,651-word body.
- Ships 2 bundled files.
Install
npx skills add PKU-YuanGroup/OpenAI4S/bio-phasing-imputation-genotype-imputationWhat it says it does
Imputes untyped genotypes against a phased reference panel with Beagle, Minimac4, or IMPUTE5 (array data) or from genotype likelihoods with GLIMPSE2, QUILT2, or STITCH (low-coverage WGS), producing per-variant dosages (DS) with a self-estimated quality (Beagle DR2, Minimac R2, IMPUTE INFO). Covers why the honest output is a dosage posterior not a hard call, why GWAS regresses on DS, why the quality metric is an ESTIMATE of r2 from posterior spread (not validation against truth), the DS/GP/HDS fields, the phasing prerequisite, chunking, chrX ploidy, the Michigan/TOPMed servers (the only access to HRC/TOPMed), and low-coverage WGS as the modern array replacement. Use when increasing variant density for GWAS, harmonizing arrays, inferring untyped variants, or imputing low-coverage sequence. Phase first with haplotype-phasing; prepare the panel with reference-panels; filter with imputation-qc; the GWAS test is population-genetics/association-testing; end-to-end orchestration is workflows/gwas-pipeline.
Also in PKU-YuanGroup/OpenAI4S
| Artifact | Score | What the check found | Type | Reach | Last commit |
|---|---|---|---|---|---|
| bio-atac-seq-allele-specific-accessibilityPKU-YuanGroup/OpenAI4S | clean | Skill | 335 stars | today | |
| bio-atac-seq-atac-peak-callingPKU-YuanGroup/OpenAI4S | clean | Skill | 335 stars | today | |
| bio-atac-seq-consensus-peaksetPKU-YuanGroup/OpenAI4S | clean | Skill | 335 stars | today | |
| bio-atac-seq-deep-learning-atacPKU-YuanGroup/OpenAI4S | clean | Skill | 335 stars | today | |
| bio-atac-seq-footprintingPKU-YuanGroup/OpenAI4S | clean | Skill | 335 stars | today | |
| bio-causal-genomics-effector-gene-prioritizationPKU-YuanGroup/OpenAI4S | clean | Skill | 335 stars | today |
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