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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.

69

Quality

85%

Does it follow best practices?

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SecuritybySnyk

Low

Low-risk findings worth noting

SKILL.md
Quality
Evals
Security

Quality

Content

77%

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 workflow with a clear 7-phase sequence, executable per-database code, and useful troubleshooting and fallback guidance. It is somewhat verbose in its evidence-reasoning prose and ships as a large monolithic file without progressive disclosure into reference files.

Suggestions

Tighten the 'Reasoning Strategies for Evidence Evaluation' and 'LOOK UP, DON'T GUESS' sections to domain-specific cues (e.g., DisGeNET curated-vs-text-mining interpretation), dropping general methodology Claude already knows.

Externalize large reusable artifacts — the BRCA1 concordance example table and per-phase code templates — into a references/ file linked from a concise overview, reducing the ~250-line monolithic SKILL.md.

Trim 'Interpreting DisGeNET scores' and the Core Principles list to bare operational cues so every remaining token earns its place.

DimensionReasoningScore

Conciseness

Mostly efficient executable code, but the 'Reasoning Strategies for Evidence Evaluation' and 'LOOK UP, DON'T GUESS' sections restate general scientific methodology (e.g., genetic-evidence hierarchy, search-don't-guess) that Claude already knows; could be tightened.

2 / 3

Actionability

Provides extensive copy-paste-ready executable Python with real tool names and parameters per phase, plus a concrete BRCA1 concordance example table and specific troubleshooting fixes.

3 / 3

Workflow Clarity

Clear 7-phase sequence with an ASCII flow diagram, explicit API-key fallbacks, and a troubleshooting section that gives if-empty-then-do-X error-recovery feedback loops.

3 / 3

Progressive Disclosure

Well-organized sections and clearly signaled one-level-deep sibling-skill references, but it ships as a ~250-line monolithic SKILL.md with reusable examples that could be split into reference files.

2 / 3

Total

10

/

12

Passed

Description

92%

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 concrete capabilities, includes natural trigger phrasings, and gives explicit 'Use for' guidance. Its one weakness is overlap with sibling tooluniverse disease skills on disease-causing-genes queries, which slightly raises conflict risk.

DimensionReasoningScore

Specificity

Lists multiple concrete actions — association analysis, cross-referencing multiple sources, evidence-graded reports, and concordance scoring — rather than vague language.

3 / 3

Completeness

Explicitly states what it does (evidence-graded association reports with concordance scoring) and when to use it via an explicit 'Use for ...' clause with example queries.

3 / 3

Trigger Term Quality

Includes natural user phrasings ('which diseases is gene X associated with', 'which genes cause disease Y') alongside database names users would actually mention.

3 / 3

Distinctiveness Conflict Risk

The gene-disease framing with six named databases is specific, but trigger phrasings like 'which genes cause disease Y' overlap with sibling tooluniverse skills (rare-disease-diagnosis, disease-research), creating conflict risk among related skills.

2 / 3

Total

11

/

12

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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