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tooluniverse-structural-variant-analysis

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.

64

Quality

75%

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SecuritybySnyk

Low

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tessl review fix ./plugin/skills/tooluniverse-structural-variant-analysis/SKILL.md
SKILL.md
Quality
Evals
Security

Quality

Content

50%

Reviews the quality of instructions and guidance provided to agents. Good implementation is clear, handles edge cases, and produces reliable results.

A well-structured, domain-rich workflow with clear phases and concrete tool guidance, but it is undermined by redundancy in the reasoning section, missing validation checkpoints, and reference files that are signaled but absent from the bundle. Actionability and progressive disclosure are the weakest dimensions.

Suggestions

Inline the core Phase 5 scoring breakdown (component thresholds mapping to the 0-10 / 5-tier scale) or provide CLASSIFICATION_GUIDE.md and ANALYSIS_PROCEDURES.md in a bundle directory so the deferred detail is actually reachable.

Remove the overlap between 'SV Pathogenicity Reasoning (Start Here)' and the per-phase sections, keeping the reasoning as a concise decision tree and letting the phases carry the procedural detail.

Add explicit validation checkpoints to the workflow (e.g., 'Confirm ClinGen HI/TS and gnomAD data were retrieved before computing the Phase 5 score') so the multi-step process has feedback loops.

DimensionReasoningScore

Conciseness

Mostly efficient and assumes Claude's programming competence, but the 'SV Pathogenicity Reasoning (Start Here)' section substantially overlaps the per-phase descriptions and the KEY PRINCIPLES list, so it could be tightened. Not score 3 because of this redundancy; not score 1 because content is domain-specific guidance rather than padded basics.

2 / 3

Actionability

Names specific tools (ClinGen_search_dosage_sensitivity, gnomad_search_variants) and concrete thresholds (HI score 3, pLI >= 0.9, >=1% BA1), but the detailed Phase 5 scoring breakdown and implementation are deferred to CLASSIFICATION_GUIDE.md / ANALYSIS_PROCEDURES.md, which are not present in the bundle, and no executable code is shown. Not score 3 because the core quantitative guidance is incomplete; not score 1 because tool names and decision rules are concrete.

2 / 3

Workflow Clarity

A clear 7-phase sequence with per-phase goals is present, but there are no explicit validation checkpoints or feedback loops (e.g., verify ClinGen/gnomAD data was retrieved before scoring); 'Document this reasoning before computing' is implicit. Not score 3 because checkpoints are missing; not score 1 because the sequence is well-ordered.

2 / 3

Progressive Disclosure

References are well-signaled and one level deep (CLASSIFICATION_GUIDE.md, ANALYSIS_PROCEDURES.md, REPORT_TEMPLATE.md, EXAMPLES.md), but no bundle directory exists and none of these referenced files are present, so the disclosed detail is unreachable. Not score 3 because referenced files are missing; not score 1 because the overview/reference structure is itself well organized.

2 / 3

Total

8

/

12

Passed

Description

100%

Based on the skill's description, can an agent find and select it at the right time? Clear, specific descriptions lead to better discovery.

A strong, third-person description that names concrete capabilities, provides explicit 'Use for' triggers, and is clearly distinguishable from sibling variant-interpretation skills. No verbosity or first/second-person voice issues.

DimensionReasoningScore

Specificity

Lists multiple concrete actions — 'clinical interpretation', 'Applies ACMG-adapted criteria with ClinGen HI/TS dosage scores', 'Produces 5-tier classification with explicit per-criterion evidence' — matching the score-3 anchor for multiple specific concrete actions.

3 / 3

Completeness

Explicitly answers what ('clinical interpretation... Produces 5-tier classification') and when via an explicit 'Use for clinical genomics SV review, dosage-sensitivity assessment, breakpoint analysis, and CNV pathogenicity calls' trigger clause.

3 / 3

Trigger Term Quality

Covers natural terms a clinical-genomics user would say — 'structural variant', 'deletions, duplications, inversions, translocations', 'CNV pathogenicity calls', 'dosage-sensitivity assessment', 'breakpoint analysis' — with good breadth of variations.

3 / 3

Distinctiveness Conflict Risk

Occupies a clear niche (structural-variant dosage-sensitivity interpretation) distinct from SNV/indel interpretation, with triggers unlikely to fire for unrelated skills.

3 / 3

Total

12

/

12

Passed

Validation

100%

Checks the skill against the spec for correct structure and formatting. All validation checks must pass before discovery and implementation can be scored.

Validation16 / 16 Passed

Validation for skill structure

No warnings or errors.

Repository
mims-harvard/ToolUniverse
Reviewed

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