tooluniverse-structural-variant-analysis
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.
63
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.mdLoading evals
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- wu-yc/LabClaw
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