bio-phasing-imputation-haplotype-phasing
PKU-YuanGroup/OpenAI4SEstimates haplotype phase from population linkage disequilibrium with SHAPEIT5, SHAPEIT4, Eagle2, or Beagle - turning unphased genotypes (0/1) into phased…
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.
- 2,290-word body.
- Ships 2 bundled files.
Install
npx skills add PKU-YuanGroup/OpenAI4S/bio-phasing-imputation-haplotype-phasingWhat it says it does
Estimates haplotype phase from population linkage disequilibrium with SHAPEIT5, SHAPEIT4, Eagle2, or Beagle - turning unphased genotypes (0/1) into phased haplotypes (0|1) for imputation input, compound-heterozygote calls, HLA typing, or population genetics. Covers why statistical phase is an INFERENCE (not a measurement) whose error concentrates at rare variants, why a genome-wide switch-error rate hides catastrophic rare-variant error and must be reported MAC-stratified, the SHAPEIT5 common-scaffold-then-rare design (phase_common, ligate, phase_rare, switch), reference-based vs within-cohort phasing, the build-matched genetic map, chrX male-haploid handling, and the switch-vs-flip-vs-Hamming distinction. Use when phasing genotypes before imputation, for compound-het/ASE/HLA, or benchmarking against trios. Read-backed / molecular phasing (long reads, Hi-C) is long-read-sequencing/haplotype-phasing; panel choice is reference-panels; imputation is genotype-imputation.
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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