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.
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75%
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Low
Low-risk findings worth noting
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tessl review fix ./skills/bio/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’s required runtime reads outsider-authored free text from DECIPHER patient case records via `DECIPHER_search` (used in Phases 4 and 6) to assess phenotype similarity and cohort evidence.
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