Data Science & Analytics

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/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, interpreting structural variants, assessing CNV pathogenicity, comparing cohorts, or answering variant analysis questions.

Publisher / source

FreedomIntelligence/OpenClaw-Medical-Skills (found on GitHub top repositories)

Upstream record

FreedomIntelligence/OpenClaw-Medical-Skills

Version

Version 1

Published

2026-11-06

Publication review

Approved for publication · recorded passed scan 2026-11-06

Content fingerprint

5e442a8197f5e98088e1eea95895eb645008b8cf09a3512f947c9bbc83a70cd6