Назад към всички

vep-variant-annotator

// Variant Effect Predictor skill for comprehensive variant annotation with clinical database integration

$ git log --oneline --stat
stars:384
forks:73
updated:March 4, 2026
SKILL.mdreadonly
SKILL.md Frontmatter
namevep-variant-annotator
descriptionVariant Effect Predictor skill for comprehensive variant annotation with clinical database integration
allowed-toolsRead,Write,Glob,Grep,Edit,WebFetch,WebSearch,Bash
metadata[object Object]

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)