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tooluniverse-gene-disease-association

Gene-disease association analysis across DisGeNET, OpenTargets, Monarch, OMIM, GenCC, Orphanet. Cross-references multiple sources for evidence-graded association reports with concordance scoring (5/5 sources agree → strong, 1/5 → weak). Use for 'which diseases is gene X associated with' or 'which genes cause disease Y' queries with quantitative confidence.

71

Quality

87%

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SecuritybySnyk

Low

Low-risk findings worth noting

SKILL.md
Quality
Evals
Security

Quality

Content

82%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, highly actionable skill body anchored in executable tool calls across a clear 7-phase workflow with fallbacks and troubleshooting. It is concise and well-organized, with only minor room to add an explicit ID-resolution checkpoint and to externalize the tool-call catalog.

Suggestions

Add an explicit validation checkpoint at the end of Phase 1 confirming each required ID (Ensembl/HGNC/MIM or MONDO/EFO/ORPHA) resolved before proceeding to downstream phases.

Consider moving the per-phase tool-call catalog into a bundled reference file (e.g. references/tool-calls.md) and keeping SKILL.md as a phase overview with one-level links, to improve progressive disclosure.

Tighten the 'Reasoning Strategies' and 'Troubleshooting' prose by converting narrative paragraphs into scannable bullet rules to trim tokens further.

DimensionReasoningScore

Conciseness

Code-forward and largely free of basic-concept padding; the reasoning-strategies and troubleshooting prose add domain value but could be trimmed slightly, keeping it just below a fully lean 5.

4 / 5

Actionability

Fully executable Python tool calls with named functions, real parameters, and inline return annotations per phase, plus a concrete BRCA1 synthesis table—copy-paste ready and covering common cases.

5 / 5

Workflow Clarity

A clear 7-phase sequence with an ASCII flow diagram, explicit API-key fallbacks, and a troubleshooting section; falls short of 5 only because there is no explicit checkpoint confirming IDs were resolved before downstream phases.

4 / 5

Progressive Disclosure

Well-organized into clearly headed phases with one-level sibling-skill links in Resources and no nested references; the inline per-phase tool catalog and example table could be split into a reference file to reach 5.

4 / 5

Total

17

/

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, specific description that names the domain, concrete actions, and the quantitative concordance mechanism, with explicit 'Use for' trigger phrasing in the user's likely wording. Minor room for broader synonym coverage, but otherwise comprehensive and clearly distinguishable.

DimensionReasoningScore

Specificity

Lists multiple concrete actions—'Cross-references multiple sources', 'evidence-graded association reports', 'concordance scoring (5/5 sources agree → strong, 1/5 → weak)'—with quantitative mechanics, giving comprehensive coverage of the domain.

5 / 5

Completeness

Explicitly answers both 'what' (cross-source evidence-graded association reports with concordance scoring) and 'when' ('Use for ... queries with quantitative confidence') with concrete trigger phrases.

5 / 5

Trigger Term Quality

Includes natural user phrasings ('which diseases is gene X associated with', 'which genes cause disease Y', 'quantitative confidence'), but lacks broader synonym/file-extension coverage that would warrant a 5.

4 / 5

Distinctiveness Conflict Risk

A clear niche—gene-disease association across six named databases with concordance scoring—minimal overlap with sibling skills like variant-interpretation or disease-research.

5 / 5

Total

19

/

20

Passed

Validation

93%

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

Validation15 / 16 Passed

Validation for skill structure

CriteriaDescriptionResult

relative_links

Relative link issues: 4 suspicious

Warning

Total

15

/

16

Passed

Repository
mims-harvard/ToolUniverse
Reviewed

Table of Contents

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