bio-phasing-imputation-imputation-qc
Installation
SKILL.md
Version Compatibility
Reference examples tested with: bcftools 1.19+, matplotlib 3.8+, numpy 1.26+, pandas 2.2+
Before using code patterns, verify installed versions match. If versions differ:
- Python:
pip show <package>thenhelp(module.function)to check signatures - CLI:
<tool> --versionthen<tool> --helpto confirm flags
If code throws ImportError, AttributeError, or TypeError, introspect the installed package and adapt the example to match the actual API rather than retrying.
Imputation QC
"Filter my imputed genotypes by quality" → Assess imputation accuracy using INFO/R2 scores, filter low-quality imputed variants, and validate against known genotypes before downstream GWAS.
- CLI:
bcftools query -f '%CHROM %POS %INFO/R2\n'to extract quality scores - Python:
pandasfor R2 distribution analysis and threshold selection