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tooluniverse-variant-to-mechanism

End-to-end variant-to-mechanism analysis — trace a variant (rsID/coordinates) through regulatory context, target gene(s), molecular pathway(s), and phenotypic consequences. Integrates 7+ databases across 3 evidence layers (regulatory, molecular, disease) for a mechanistic model. Use for GWAS-hit-to-mechanism, eQTL-causal-gene tracing, and full causal-chain reports.

Quality

85%

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SKILL.md
Quality
Evals
Security

Quality

Content

71%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.

Highly actionable content with an unusually strong attention to tool-specific gotchas (exact params, broken endpoints, ID-format requirements) and a well-sequenced six-phase workflow with fallbacks. Its weaknesses are verbosity (duplicated pitfall lists, basic molecular-genetics explanation) and the absence of any progressive disclosure: a ~380-line monolith whose tool catalogue would be better split into reference files.

Suggestions

Move the Phase 1-5 tool parameter/response-format catalogue into a references/ file (e.g., references/tools.md) and keep SKILL.md as the workflow overview with one-line-per-tool pointers, so the tool reference is loaded only when needed.

Remove the duplicate parameter-pitfall list: state each pitfall once, either inline in the code block or in 'Common Mistakes', not both.

Trim explanations of concepts Claude already knows (e.g., what missense/nonsense variants do, that proximity alone is unreliable) down to the skill-specific guidance around them.

DimensionReasoningScore

Conciseness

Most content is genuinely non-obvious tool knowledge (param names like variant_id vs rsid, broken endpoints, GTEx v8 vs v10), but the body also explains concepts Claude already knows ("a missense variant swaps one amino acid, a nonsense variant truncates it") and duplicates the parameter pitfalls both as inline code comments and again in the 'Common Mistakes' section. Mostly efficient but includes unnecessary explanation and could be tightened, matching anchor 3 better than anchor 4.

3 / 5

Actionability

Every phase gives copy-paste-ready tooluniverse calls with exact parameter names, expected response shapes, and concrete decision thresholds (CADD >=20 top 1%, L2G > 0.5 high confidence, RegulomeDB 1a-2a). The examples cover the common cases end-to-end, matching anchor 5.

5 / 5

Workflow Clarity

Six clearly sequenced phases with an overview, per-phase dependency notes ("Extract Ensembl ID for OpenTargets queries"), response-format error handling, and a dedicated fallbacks section for missing data. Minor validation gaps remain: there is no consolidated verify-each-call-succeeded checkpoint before proceeding to the next phase, so anchor 4 fits better than anchor 5.

4 / 5

Progressive Disclosure

The file is well-sectioned, but no references/ bundle exists and roughly 150 lines of inline tool parameter and response-format catalogue across Phases 1-5 (plus the programmatic-access API snippets) read as an API reference that belongs in a separate file. Anchor 3 ('content that should be separate is inline') fits; anchor 4 requires references that are mostly clear and appropriately split, which is not the case here.

3 / 5

Total

15

/

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, third-person, comprehensive about the pipeline stages, with an explicit 'Use for' clause carrying specific trigger phrases. The only gap is a few missing natural synonyms (e.g., SNP, non-coding variant) that users might say when invoking this skill.

DimensionReasoningScore

Specificity

"trace a variant (rsID/coordinates) through regulatory context, target gene(s), molecular pathway(s), and phenotypic consequences" and "Integrates 7+ databases across 3 evidence layers" list multiple concrete actions covering the full pipeline comprehensively, in third-person voice. Coverage is comprehensive rather than having minor gaps, so it fits anchor 5 over anchor 4.

5 / 5

Completeness

Explicitly answers both what ("trace a variant through regulatory context, target gene(s), molecular pathway(s), and phenotypic consequences... for a mechanistic model") and when ("Use for GWAS-hit-to-mechanism, eQTL-causal-gene tracing, and full causal-chain reports") with concrete trigger phrases. The 'when' clause is explicit and specific, matching anchor 5 rather than the weaker anchor 4.

5 / 5

Trigger Term Quality

Natural domain triggers are present ("GWAS-hit-to-mechanism", "eQTL-causal-gene tracing", "causal-chain reports", "rsID"), but common user phrasings like "SNP", "non-coding variant", or "functional impact" are missing. Good coverage with a few natural terms absent fits anchor 4 rather than the comprehensive synonym coverage of anchor 5.

4 / 5

Distinctiveness Conflict Risk

"variant-to-mechanism" and "eQTL-causal-gene tracing" carve a clear niche distinct from variant pathogenicity, GWAS listing, or pharmacogenomics skills; the skill body even enumerates five sibling skills for routing. Minimal conflict risk fits anchor 5; anchor 4's 'minor overlap risk with closely related skills' undersells how specifically the triggers are scoped.

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

Path

plugins/tooluniverse/skills/tooluniverse-variant-to-mechanism/SKILL.md

Reviewed

Table of Contents

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