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.
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Low-risk findings worth noting
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tessl review fix ./plugin/skills/tooluniverse-structural-variant-analysis/SKILL.mdLow
Low-risk findings.
1 low severity finding. Worth noting, but not necessarily harmful.
The skill exposes the agent to untrusted, user-generated content from public third-party sources, creating a risk of indirect prompt injection. This includes browsing arbitrary URLs, reading social media posts or forum comments, and analyzing content from unknown websites.
The workflow ingests and reasons over user-provided free-text phenotype/variant details (e.g., via the skill trigger where users “Ask about structural variant interpretation” / provide CNV/SV details) that are then used to drive tool queries and report generation.
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