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tooluniverse-variant-analysis

Production-ready VCF processing, variant annotation, mutation analysis, and structural variant (SV/CNV) interpretation for bioinformatics questions. Parses VCF files (streaming, large files), classifies mutation types (missense, nonsense, synonymous, frameshift, splice, intronic, intergenic) and structural variants (deletions, duplications, inversions, translocations), applies VAF/depth/quality/co

2estrelas
Atualizado há 4 meses

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Ler descrição completa

Variant Analysis and Annotation

Production-ready VCF processing and variant annotation skill combining local bioinformatics computation with ToolUniverse database integration. Designed to answer bioinformatics analysis questions about VCF data, mutation classification, variant filtering, and clinical annotation.

When to Use This Skill

Triggers:

  • User provides a VCF file (SNV/indel or SV) and asks questions about its contents
  • Questions about variant allele frequency (VAF) filtering

[Description truncada. Veja o README completo no GitHub.]

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