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tooluniverse-gene-disease-association

Gene-disease association analysis across DisGeNET, OpenTargets, Monarch, OMIM, GenCC, Orphanet, Gene2Phenotype (G2P). 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, including clinical-panel-based curation (developmental disorders, cancer, cardiac, skeletal, eye, skin panels).

Quality

89%

Does it follow best practices?

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SecuritybySnyk

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SKILL.md
Quality
Evals
Security

Quality

Content

78%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 highly actionable, well-sequenced workflow: concrete tool calls for every database, explicit API-key fallbacks, and a genuinely useful troubleshooting section. The main weaknesses are structural — everything lives inline in one long SKILL.md with no progressive disclosure into reference files — and a reasoning section that over-explains evidence concepts Claude already knows.

Suggestions

Split the per-database detail (Phases 2–5 tool catalogs, G2P commentary) into references/ files (e.g. DATABASES.md, keeping only a one-line summary plus key call per database in SKILL.md) so the main file is an overview with clearly signaled one-level-deep references.

Trim the "Reasoning Strategies for Evidence Evaluation" section to the non-obvious guidance (concordance ≠ independence, Mendelian vs complex distinction) and cut general statements like the multiple-lines-of-evidence and liver-enzyme-plausibility examples that Claude already knows.

Embed validation checkpoints into the phase sequence itself (e.g. "after Phase 1, confirm the resolved Ensembl ID/HGNC CURIE before proceeding; if empty, re-run MyGene_query_genes") instead of concentrating all error handling in the trailing Troubleshooting section.

DimensionReasoningScore

Conciseness

The body is dense and mostly earns its tokens — tool calls carry expected outputs in comments, fallbacks are one line each, and the G2P commentary conveys non-obvious domain facts. But there is minor over-explanation that could be trimmed: the "Reasoning Strategies" section teaches things Claude already knows ("A gene-disease association supported by multiple independent lines of evidence... is stronger than one supported by a single study", "A gene encoding a liver enzyme being linked to liver disease is mechanistically plausible"), and the "Core Principles" list restates the workflow. That matches 'efficient; minor instances of over-explanation' rather than the lean level-5 anchor.

4 / 5

Actionability

Every phase gives copy-paste-ready tool calls with real parameters and return expectations (e.g. "tu.tools.DisGeNET_get_gda(gene=gene_symbol, source=\"CURATED\", min_score=0.3, limit=25)", "MonarchV3_get_associations(subject=hgnc_curie, category=\"biolink:CausalGeneToDiseaseAssociation\", limit=20)"), initialization is shown, API-key prerequisites and no-key fallbacks are explicit, and the synthesis phase includes a concrete output table. The common cases (gene-centric, disease-centric, pair, panel enumeration) are all covered, matching the fully-executable anchor.

5 / 5

Workflow Clarity

The seven phases are clearly sequenced with an ASCII overview, ID resolution comes first, the optional phase is gated ("Run when the query is gene-based and variant-level evidence adds value"), and the Troubleshooting section supplies error-recovery feedback loops ("DisGeNET returns empty: Check DISGENET_API_KEY. Try UMLS CUI instead of disease name"). However, these checkpoints live in a separate troubleshooting section rather than embedded validation gates in the sequence, and there is no explicit verify-before-proceeding step for resolved IDs — 'clear sequence with most checkpoints present; minor validation gaps' fits better than the level-5 embedded-checkpoint anchor. The destructive/batch cap does not apply since this is read-only querying.

4 / 5

Progressive Disclosure

The skill is a single ~250-line SKILL.md with no references/ or scripts/ bundle. It is well-sectioned with headers and clear cross-links to sibling skills, but content that naturally belongs in separate files is inlined: the full per-database API usage for seven databases (Phases 2–5), the G2P commentary, and the reasoning-strategies prose. This matches the level-3 anchor ('some structure but could be better organized; content that should be separate is inline') better than level 4, since a SKILL.md of this length should point to per-database reference files rather than inlining them all.

3 / 5

Total

16

/

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: it names concrete actions and seven specific databases, quantifies its concordance scoring, and includes explicit quoted trigger queries covering both query directions. The only weakness is moderate overlap risk with the sibling tooluniverse disease/variant skills it cross-references.

DimensionReasoningScore

Specificity

The description lists multiple concrete actions — "Gene-disease association analysis across DisGeNET, OpenTargets, Monarch, OMIM, GenCC, Orphanet, Gene2Phenotype (G2P)", "Cross-references multiple sources", "evidence-graded association reports with concordance scoring", "clinical-panel-based curation" — covering both gene-centric and disease-centric directions comprehensively. It names seven specific databases and a concrete scoring rubric (5/5 → strong, 1/5 → weak), matching the comprehensive-coverage anchor rather than the minor-gaps anchor below.

5 / 5

Completeness

Both what and when are explicitly answered: what = cross-referencing seven named databases to produce evidence-graded association reports with concordance scoring; when = an explicit "Use for 'which diseases is gene X associated with' or 'which genes cause disease Y' queries with quantitative confidence" clause with concrete trigger phrases. This matches the anchor that clearly and explicitly answers both with concrete triggers, not the level-4 anchor where 'when' could be more specific.

5 / 5

Trigger Term Quality

Natural user phrasings are quoted verbatim as triggers — "which diseases is gene X associated with" and "which genes cause disease Y" — plus domain terms users would actually say: "gene-disease association", "quantitative confidence", and panel names (developmental disorders, cancer, cardiac, skeletal, eye, skin). Synonym coverage (association/cause, gene-centric/disease-centric) is thorough, matching the comprehensive-coverage anchor; there are no obvious missing natural variations.

5 / 5

Distinctiveness Conflict Risk

The gene-disease-association niche with named databases is mostly distinct, but the skill ecosystem contains closely overlapping siblings it links to itself (tooluniverse-disease-research, tooluniverse-rare-disease-diagnosis, tooluniverse-variant-analysis), and queries like "which diseases is gene X associated with" could plausibly route to disease-research. This is minor overlap risk with closely related skills — the level-4 anchor — rather than the minimal-conflict level 5.

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.

Validation — 15 / 16 Passed

Validation for skill structure

CriteriaDescriptionResult

relative_links

Relative link issues: 4 suspicious

Warning

Total

15

/

16

Passed

Repository

mims-harvard/ToolUniverse

Path

plugin/skills/tooluniverse-gene-disease-association/SKILL.md

Reviewed

Table of Contents

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