vep-variant-annotator
Variant Effect Predictor skill for comprehensive variant annotation with clinical database integration
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技能内容
VEP Variant Annotator Skill
Purpose
Provide comprehensive variant annotation using Variant Effect Predictor with clinical database integration.
Capabilities
- Functional consequence prediction
- Population frequency annotation (gnomAD)
- Clinical database integration (ClinVar, COSMIC)
- Custom annotation plugins
- Pathogenicity score integration (CADD, REVEL)
- Regulatory region annotation
Usage Guidelines
- Configure VEP with relevant annotation sources
- Include population frequency databases
- Add clinical databases for interpretation
- Use pathogenicity predictors for prioritization
- Document annotation database versions
- Update annotations regularly
Dependencies
- Ensembl VEP
- ANNOVAR
- SnpEff
Process Integration
- Whole Genome Sequencing Pipeline (wgs-analysis-pipeline)
- Clinical Variant Interpretation (clinical-variant-interpretation)
- Pharmacogenomics Analysis (pharmacogenomics-analysis)
- Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)
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原文件路径
library/specializations/domains/science/bioinformatics/skills/vep-variant-annotator/SKILL.md