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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.

63

Quality

74%

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SecuritybySnyk

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

Quality

Content

56%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.

The body presents a well-sequenced, domain-credible seven-phase SV interpretation workflow with concrete tool names and quantitative thresholds, but its execution depends on four referenced files that are not shipped with the skill, leaving the actual scoring tables, pseudocode, and report template unreachable. Tool inventories and dosage-score rules are also stated twice, inflating token cost without adding information. Fixing the dangling references would lift both actionability and progressive disclosure substantially.

Suggestions

Ship the four referenced files (CLASSIFICATION_GUIDE.md, ANALYSIS_PROCEDURES.md, REPORT_TEMPLATE.md, EXAMPLES.md) or inline their essential content (scoring breakdown, evidence-code table, report template) — currently every deferred detail is unreachable.

Deduplicate the dosage-sensitivity score rules and the tool inventory: state ClinGen HI/TS interpretation once and let 'Required Tools Reference' be the single tool list instead of repeating per-phase listings.

Add explicit validation checkpoints to the workflow, e.g. 'if ClinGen returns no HI/TS data, fall back to OMIM inheritance as weaker evidence and mark PP4 as Limited' and a rule for resolving quantitative-score vs. ACMG-code conflicts before final classification.

DimensionReasoningScore

Conciseness

The body is mostly efficient but has clear tightening opportunities: dosage-sensitivity thresholds appear twice (HI/TS score rules in 'SV Pathogenicity Reasoning' and again in 'Phase 3'), every tool is listed per-phase and then re-listed verbatim in 'Required Tools Reference', and the 'KEY PRINCIPLES' list restates points already made in the reasoning section. Not 4: the duplication is more than minor — a reader processes the same HI/TS score interpretations and the same tool inventory twice; not 2: there is no padded explanation of concepts Claude already knows, and each section does carry substance.

3 / 5

Actionability

There is real concrete guidance — exact tool names, explicit thresholds (ClinGen HI score 3, pLI >= 0.9, >=70% reciprocal overlap, >=1% BA1) and a report file-naming pattern — but the executable specifics are systematically deferred to 'ANALYSIS_PROCEDURES.md' ('implementation pseudocode'), 'CLASSIFICATION_GUIDE.md' ('scoring tables, ACMG code details'), and 'REPORT_TEMPLATE.md', none of which exist in the bundle, so the promised pseudocode, scoring breakdowns, and template are unavailable. Not 4: the missing key details go beyond minor gaps — no example tool invocation, no worked scoring computation, and the deferred files are dangling; not 2: it gives far more than high-level hints, with specific tools and quantitative cutoffs for each phase.

3 / 5

Workflow Clarity

The seven-phase workflow is clearly sequenced with a per-phase goal, an upfront reasoning checklist ('Work through these questions in order'), and specific checkpoints like 'PM2 requires absence from population databases at >=70% reciprocal overlap' and 'PS2 requires confirmed de novo status (check parental genotypes if available)'. Not 5: there are no explicit validate-then-proceed or error-recovery loops (e.g., what to do when ClinGen returns no data, or how to reconcile a high quantitative score with an ACMG benign call); not 3: the sequence is coherent, ordered, and includes several concrete gating conditions rather than only implicit checkpoints.

4 / 5

Progressive Disclosure

The in-body structure is good — phases stay lean and point outward with clearly signaled, one-level-deep references ('For SV type definitions, scoring tables, and ACMG code details, see CLASSIFICATION_GUIDE.md' plus a 'Reference Files' index) — but the bundle contains no files at all: CLASSIFICATION_GUIDE.md, ANALYSIS_PROCEDURES.md, REPORT_TEMPLATE.md, and EXAMPLES.md are all absent, so every reference is dangling and navigation dead-ends. Not 4: 'references mostly clear' requires the referenced files to actually exist — here the split is designed but not delivered; not 2: nothing is deeply nested or buried, and no bulk content that belongs in separate files is inlined — the problem is missing files, not monolithic structure.

3 / 5

Total

13

/

20

Passed

Description

92%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: concrete actions, explicit 'Use for...' trigger guidance, good synonym coverage, and a clearly demarcated clinical-genomics SV niche. The trailing fragment 'Gene-dosage-driven reasoning.' adds little, and a few natural user phrasings ('copy number variant', 'is this deletion pathogenic') would strengthen trigger matching, but overall it reads like a model description.

DimensionReasoningScore

Specificity

The description lists multiple concrete actions with full domain coverage: 'Applies ACMG-adapted criteria with ClinGen HI/TS dosage scores, gnomAD frequencies, and ClinVar evidence', 'Produces 5-tier classification with explicit per-criterion evidence', and 'CNV pathogenicity calls' / 'breakpoint analysis'. Not below 4: coverage spans interpretation inputs, method, and output; not applicable above since 5 is the top anchor and this matches it — every action is concrete, none generic.

5 / 5

Completeness

Both halves are explicit: 'what' ('Applies ACMG-adapted criteria... Produces 5-tier classification with explicit per-criterion evidence') and 'when' via the literal trigger clause 'Use for clinical genomics SV review, dosage-sensitivity assessment, breakpoint analysis, and CNV pathogenicity calls'. Not 4: the 'when' is explicit and enumerates concrete trigger phrases rather than being only generally stated; the explicit 'Use for' clause satisfies the cap rule without issue.

5 / 5

Trigger Term Quality

Good keyword coverage including the natural synonyms users would say: 'structural variant (SV)', 'deletions, duplications, inversions, translocations', 'CNV', 'clinical genomics SV review', 'dosage-sensitivity assessment'. Not 5: a few natural phrasings users actually use are missing (e.g. 'copy number variant', 'chromosomal rearrangement', a concrete question form like 'is this deletion pathogenic'); not 3: coverage already spans multiple synonym families (SV/CNV/structural variant) rather than just a few relevant keywords.

4 / 5

Distinctiveness Conflict Risk

It carves a clear niche — germline structural-variant clinical interpretation — with distinct triggers (SV, CNV, ClinGen dosage scores, breakpoint analysis) and minimal overlap risk; the closely related SNV/small-indel skill is explicitly a different territory. Not 4: even against a sibling variant-interpretation skill, the SV/CNV/dosage-sensitivity framing keeps conflict risk minimal rather than merely minor.

5 / 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
Reviewed

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