tooluniverse-variant-analysis

tooluniverse-variant-analysis is a Bioinformatics & life sciences skill for AI agents, published by FreedomIntelligence in the OpenClaw-Medical-Skills repository on GitHub. Skillspace rates tooluniverse-variant-analysis C (78/100) and it passed the safety scan; the rating is based on static analysis only.

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/consequence filters, annotates with ClinVar/dbSNP/gnomAD/CADD via ToolUniverse, interprets SV/CNV clinical significance using ClinGen dosage sensitivity scores, computes variant statistics, and generates reports. Solves questions like "What fraction of variants with VAF < 0.3 are missense?", "How many non-reference variants remain after filtering intronic/intergenic?", "What is the pathogenicity of this deletion affecting BRCA1?", or "Which dosage-sensitive genes overlap this CNV?". Use when processing VCF files, annotating variants, filtering by VAF/depth/consequence, classifying mutations,…

Grade

C

Quality

78 / 100

Safety

Passed

GitHub stars

2,848

Unproven: rated by static analysis only, not yet compared head-to-head.

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