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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.

72

Quality

89%

Does it follow best practices?

Run evals on this skill

Adds up to 20 points to the overall score

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SecuritybySnyk

Low

Low-risk findings worth noting

The canonical home for this skill is tooluniverse-gene-disease-association in mims-harvard/ToolUniverse

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 with executable code in every phase and a clear multi-phase workflow. The main gaps are mild over-explanation and the absence of explicit in-flow validation checkpoints.

Suggestions

Tighten the 'Reasoning Strategies for Evidence Evaluation' and 'LOOK UP, DON'T GUESS' sections to the non-obvious essentials; Claude already knows the genetic-evidence hierarchy at a general level.

Add an explicit validation checkpoint after Phase 1 (e.g. 'Confirm Ensembl ID / MONDO CURIE resolved before proceeding to Phase 2; if missing, retry MyGene_query_genes / MonarchV3_search') to lift workflow clarity.

Consider moving the long 'Reasoning Strategies' block into a references/ file linked from Phase 7 to keep SKILL.md a lean overview.

DimensionReasoningScore

Conciseness

Mostly efficient with executable code throughout, but sections like the genetic-evidence-hierarchy explanation and 'LOOK UP, DON'T GUESS' add explanatory prose that could be trimmed; not a 5 because a few passages over-explain.

4 / 5

Actionability

Each phase provides concrete, copy-paste-ready Python with real tu.tools.* calls and parameters (e.g. DisGeNET_get_gda(source="CURATED", min_score=0.3)), matching the fully-executable score-5 anchor.

5 / 5

Workflow Clarity

A clear 7-phase sequence with an ASCII flow diagram and a Troubleshooting section for error recovery, but there are no explicit in-flow validation checkpoints (e.g. 'verify IDs resolved before Phase 2'), so it sits below 5.

4 / 5

Progressive Disclosure

Well-organized single file with clear section headers and one-level-deep, clearly-signaled links to sibling skills; no bundle files exist so content is appropriately self-contained, but the reasoning-strategies block could conceivably be a reference.

4 / 5

Total

17

/

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, specific description that names the domain, multiple concrete actions, explicit natural trigger phrases, and a quantitative methodology. The only soft spot is minor overlap with closely related sibling skills in the same family.

DimensionReasoningScore

Specificity

Lists multiple concrete actions — 'Cross-references multiple sources for evidence-graded association reports with concordance scoring (5/5 sources agree → strong, 1/5 → weak)' — covering the domain comprehensively, matching the score-5 anchor.

5 / 5

Completeness

Clearly answers both 'what' (cross-reference 6 databases, evidence-grade, concordance scoring) and 'when' (the two quoted query patterns), with concrete trigger phrases, matching the score-5 anchor.

5 / 5

Trigger Term Quality

Explicitly quotes natural user phrasings — 'which diseases is gene X associated with' and 'which genes cause disease Y' — plus the domain term, giving comprehensive natural-term coverage for this niche.

5 / 5

Distinctiveness Conflict Risk

The 6 named databases and concordance methodology carve a clear niche, but the 'which genes cause disease Y' trigger overlaps with sibling tooluniverse skills (rare-disease-diagnosis, disease-research), so minor overlap risk remains.

4 / 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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