genomics-phasing
OfficialHaplotype phasing for variant data.
AuthorTianGzlab
Version1.0.0
Installs0
System Documentation
What problem does it solve?
This Skill addresses the challenge of understanding genetic variation by determining the specific combinations of alleles (haplotypes) that are inherited together on each chromosome. Without phasing, variants are treated as independent, hindering the analysis of complex genetic traits and disease associations.
Core Features & Use Cases
- Haplotype Determination: Accurately phases variants using established tools like WhatsHap, SHAPEIT5, and Eagle2.
- Quality Metrics: Computes essential phasing statistics such as phase block N50, fraction of phased heterozygous variants, and switch error rates.
- Use Case: For a researcher studying a genetic disorder, phasing variants is crucial to identify compound heterozygous mutations, where two different deleterious alleles on the same gene are inherited, which might be missed with unphased data.
Quick Start
Use the genomics-phasing skill to phase the variants in the file 'my_variants.vcf'.
Dependency Matrix
Required Modules
numpypandas
Components
scriptsreferences
💻 Claude Code Installation
Recommended: Let Claude install automatically. Simply copy and paste the text below to Claude Code.
Please help me install this Skill: Name: genomics-phasing Download link: https://github.com/TianGzlab/OmicsClaw/archive/main.zip#genomics-phasing Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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