Structural variant (SV) clinical interpretation: deletions, duplications, inversions, translocations, complex rearrangements. Applies ACMG-adapted criteria with ClinGen HI/TS dosage scores, gnomAD frequencies, and ClinVar evidence. Produces 5-tier classification with explicit per-criterion evidence. Use for clinical genomics SV review, dosage-sensitivity assessment, breakpoint analysis, and CNV pathogenicity calls. Gene-dosage-driven reasoning.
This skill does not declare a tool allowlist. The agent host applies whatever default tools are available at runtime.
SKILL.md / Manifest
https://raw.githubusercontent.com/mims-harvard/tooluniverse/main/plugin/skills/tooluniverse-structural-variant-analysis/SKILL.mdRegistry
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