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Babysitter vep-variant-annotator

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

install
source · Clone the upstream repo
git clone https://github.com/a5c-ai/babysitter
Claude Code · Install into ~/.claude/skills/
T=$(mktemp -d) && git clone --depth=1 https://github.com/a5c-ai/babysitter "$T" && mkdir -p ~/.claude/skills && cp -r "$T/library/specializations/domains/science/bioinformatics/skills/vep-variant-annotator" ~/.claude/skills/a5c-ai-babysitter-vep-variant-annotator && rm -rf "$T"
manifest: library/specializations/domains/science/bioinformatics/skills/vep-variant-annotator/SKILL.md
tags
#variant-annotation#clinical-database#functional-analysis#genomics#bioinformatics
source content

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)