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tooluniverse-structural-variant-analysis

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Comprehensive structural variant (SV) analysis skill for clinical genomics. Classifies SVs (deletions, duplications, inversions, translocations), assesses pathogenicity using ACMG-adapted criteria, evaluates gene disruption and dosage sensitivity, and provides clinical interpretation with evidence grading. Use when analyzing CNVs, large deletions/duplications, chromosomal rearrangements, or any structural variants requiring clinical interpretation.

When not to use

• **Single nucleotide variants (SNVs)** → Use `tooluniverse-variant-interpretation` skill
• **Small indels (<50 bp)** → Use variant interpretation skill
• **Somatic variants in cancer** → Different framework needed
• **Mitochondrial variants** → Specialized interpretation required
• **Repeat expansions** → Different mechanism

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