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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.

70

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.

Highly actionable and clearly sequenced, with executable code, exact parameter gotchas, and strong evidence-grading checkpoints. The main weaknesses are verbosity from restating basic biology and a monolithic structure with no progressive disclosure into reference files.

Suggestions

Move the basic biology explanations (coding vs non-coding, missense/nonsense, conserved-residue pathogenicity) out or condense them to one-liners, keeping only the skill-specific reasoning about eQTL/L2G/proximity evidence.

Split the full per-phase tool call catalog into a references/ file (e.g. TOOL_REFERENCE.md) and keep SKILL.md as an overview pointing to it, enabling progressive disclosure.

Consider extracting the reasoning scenarios and evidence-grading rubric into a separate reference so the main body stays a lean workflow.

DimensionReasoningScore

Conciseness

Large portions are lean, high-value skill-specific guidance (exact tool names, param gotchas like 'variant_id NOT rsid', 'gwas_get_associations_for_trait is BROKEN', MONDO-vs-EFO ID rules), but the reasoning/scenario sections restate biology Claude already knows ('a missense variant swaps one amino acid, a nonsense variant truncates it', 'conserved active site ... more likely pathogenic than ... disordered loop') and could be tightened; not a 3 due to this padding, not a 1 because the bulk is genuinely non-obvious tool guidance.

2 / 3

Actionability

Provides fully executable, copy-paste-ready Python with real example values and exact parameters ('tu.tools.EnsemblVEP_annotate_rsid(variant_id="rs7903146")', 'tu.tools.STRING_get_interaction_partners(identifiers="TCF7L2", species=9606, required_score=700)') plus annotated response formats; matches the 'fully executable code ... copy-paste ready' anchor, not a 2 because code is complete rather than pseudocode.

3 / 3

Workflow Clarity

Six phases are clearly sequenced with an arrow-linked overview, each broken into labeled sub-steps, and the per-link evidence grading (T1–T4) plus confidence tiers (Established/Strong/Moderate/Preliminary/Speculative) and the 'Common Mistakes and Fallbacks' recovery guidance act as explicit validation checkpoints and error-recovery feedback loops; matches the 'clear sequence with explicit validation steps ... feedback loops for error recovery' anchor, not a 2 because checkpoints are explicit.

3 / 3

Progressive Disclosure

No bundle files exist (references/scripts/assets absent) and the body is a single ~370-line monolith with all API details, reasoning, and scenarios inline; it is well-organized into sections but content that could be split into reference files is inline, matching the 'content that should be separate is inline' anchor; not a 1 because organization is clear (not a poor wall of text), not a 3 because nothing is split into one-level-deep referenced files (only one external-skill pointer exists).

2 / 3

Total

10

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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 with explicit what-and-when structure and natural domain triggers. Its main weakness is overlap risk with several closely related variant/genetic skills, since the stated capabilities span regulatory, gene, pathway, and disease territory.

Suggestions

Sharpen distinctiveness by foregrounding the end-to-end causal-chain synthesis as the differentiator, e.g. 'Use when you need the FULL variant→gene→pathway→disease causal chain, not a single layer (use sibling skills for single-layer tasks).'

Tighten the 'what' to emphasize the mechanistic model output rather than restating each evidence layer, reducing surface overlap with regulatory-genomics and gene-disease skills.

DimensionReasoningScore

Specificity

Lists multiple concrete actions — '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 ... for a mechanistic model' — matching the 'lists multiple specific concrete actions' anchor; not a 2 because the action set is comprehensive, not partial.

3 / 3

Completeness

Explicitly answers what ('trace a variant ... through regulatory context, target gene(s), molecular pathway(s), and phenotypic consequences') and when via an explicit 'Use for ...' clause with concrete triggers; not a 2 because the when-clause is explicit, not merely implied.

3 / 3

Trigger Term Quality

Natural domain terms a geneticist would say appear in 'Use for GWAS-hit-to-mechanism, eQTL-causal-gene tracing, and full causal-chain reports' plus 'rsID', 'regulatory context', 'target gene', giving good coverage; not a 2 because common variations are well represented rather than missing.

3 / 3

Distinctiveness Conflict Risk

The mechanistic/causal-chain framing ('variant-to-mechanism', 'causal-chain reports') is a clear niche, but the 'what' spans regulatory context + target genes + pathways + disease — broad territory shared with sibling regulatory-genomics, gwas-snp, and gene-disease skills (the body itself enumerates 5 confusable alternatives); not a 3 because real overlap risk remains, not a 1 because the niche and triggers are specific.

2 / 3

Total

11

/

12

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.

Validation16 / 16 Passed

Validation for skill structure

No warnings or errors.

Repository
mims-harvard/ToolUniverse
Reviewed

Table of Contents

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