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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.

67

Quality

80%

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SecuritybySnyk

Low

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tessl review fix ./plugins/tooluniverse/skills/tooluniverse-structural-variant-analysis/SKILL.md

The canonical home for this skill is tooluniverse-structural-variant-analysis in mims-harvard/ToolUniverse

SKILL.md
Quality
Evals
Security

Quality

Content

63%Weight 40%Scale 1-5

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-calibrated workflow with clear phase sequencing and non-obvious clinical thresholds, but its actionability depends on four companion files that are not actually in the bundle, leaving key scoring and reporting details dangling. Secondary issues are duplicated tool listings and the absence of any concrete example tool call. Weakest dimensions: actionability and progressive_disclosure.

Suggestions

Ship the four referenced bundle files (CLASSIFICATION_GUIDE.md, ANALYSIS_PROCEDURES.md, REPORT_TEMPLATE.md, EXAMPLES.md) or inline their essential content — currently every pointer to them ('see CLASSIFICATION_GUIDE.md for SV type definitions, scoring tables, and ACMG code details') is a dead end.

Add at least one concrete example tool call with expected input/output (e.g., a ClinGen_search_dosage_sensitivity query and its HI/TS result) and one worked scoring example so Phase 5's 0-10 scale is reproducible without the missing guide.

Remove the 'Required Tools Reference' section (it duplicates the per-phase tool lists) or collapse it to only the required-vs-recommended distinction to tighten conciseness.

DimensionReasoningScore

Conciseness

The body is largely efficient and assumes Claude's competence ('The LLM knows the ACMG criteria codes and combination rules') while contributing genuinely non-obvious calibration (ClinGen HI/TS thresholds, >=70% reciprocal overlap, >=1% frequency triggering BA1). Minor redundancy keeps it from level 5: tools are listed twice (per-phase and again in 'Required Tools Reference'), and the >=1%/BA1 and HI-score interpretation rules from the reasoning section are restated in Phases 3-4. It is clearly above level 3, which expects unnecessary explanation of things Claude already knows — there is none.

4 / 5

Actionability

Guidance includes concrete tool names per phase, numeric thresholds, and an explicit output filename convention, but it stops short of executable detail: no example tool queries are shown, and the key operational content — scoring breakdowns, ACMG evidence code tables, implementation 'pseudocode' (itself penalized), and the report template — is deferred to files (CLASSIFICATION_GUIDE.md, ANALYSIS_PROCEDURES.md, REPORT_TEMPLATE.md) that are not present in the bundle. This matches 'Some concrete guidance but incomplete; missing key details' rather than level 4's 'minor gaps'.

3 / 5

Workflow Clarity

The seven phases are clearly sequenced, each with a stated goal and assigned tools, and the 'SV Pathogenicity Reasoning (Start Here)' section frames the analysis before execution. Checkpoints exist but are implicit rather than explicit validation steps (e.g., 'check parental genotypes if available', 'assess breakpoint precision' are mentioned but no verify-then-proceed loop is defined), matching level 4's 'most checkpoints present; minor validation gaps' rather than level 5's explicit validation with feedback loops.

4 / 5

Progressive Disclosure

References are well signaled and one level deep (inline per-phase pointers plus a dedicated 'Reference Files' section), but the four referenced files do not exist in the bundle — there are no references/ or other bundle directories — so the deferred content (classification tables, procedures, report template, examples) is unreachable and critical detail is effectively missing rather than appropriately split. That fits level 3 ('could be better organized... content that should be separate is inline/ineffective') better than level 4's 'most content is appropriately placed', since the split only works if the target files exist.

3 / 5

Total

14

/

20

Passed

Description

96%Weight 40%Scale 1-5

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 description: third-person, concrete, and comprehensive, with an explicit 'Use for' clause and rich natural trigger terms for the clinical genomics SV domain. The only weakness is mild overlap risk with a general variant-interpretation skill for ambiguous 'interpret this variant' requests.

DimensionReasoningScore

Specificity

The description lists multiple concrete actions — 'Applies ACMG-adapted criteria with ClinGen HI/TS dosage scores, gnomAD frequencies, and ClinVar evidence' and 'Produces 5-tier classification with explicit per-criterion evidence' — covering the domain comprehensively with named data sources and a concrete output. It matches the anchor 'Lists multiple specific concrete actions; comprehensive coverage' and exceeds the level-4 anchor, which expects minor coverage gaps.

5 / 5

Completeness

It explicitly answers both questions: what it does ('Applies ACMG-adapted criteria... Produces 5-tier classification with explicit per-criterion evidence') and when to use it ('Use for clinical genomics SV review, dosage-sensitivity assessment, breakpoint analysis, and CNV pathogenicity calls'). This matches the level-5 anchor with a concrete 'Use for' trigger clause; level 4 would require the 'when' to be less explicit.

5 / 5

Trigger Term Quality

Natural user phrasing is well covered: 'structural variant (SV)', 'deletions, duplications, inversions, translocations', 'CNV pathogenicity calls', 'dosage-sensitivity assessment', 'breakpoint analysis', and 'clinical genomics SV review' include the abbreviation, the spelled-out forms, and the question users actually ask ('is this CNV pathogenic'). This matches the level-5 anchor's comprehensive synonym coverage; only trivially distant variants (e.g., 'copy number variation' spelled out) are missing, which is not enough to drop to 4.

5 / 5

Distinctiveness Conflict Risk

The SV/CNV scope ('deletions, duplications, inversions, translocations, complex rearrangements', 'CNV pathogenicity calls') carves a clear niche with mostly distinct triggers. However, a user asking generically to 'interpret this variant' or 'assess pathogenicity' without specifying variant type could plausibly trigger both this and a general variant-interpretation skill (a sibling SNV skill exists per the body), so 'minor overlap risk with closely related skills' (level 4) fits better than level 5's 'minimal conflict risk'.

4 / 5

Total

19

/

20

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.

Validation — 16 / 16 Passed

Validation for skill structure

No warnings or errors.

Repository
mims-harvard/ToolUniverse
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