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tooluniverse-regulatory-variant-analysis

Non-coding/regulatory variant interpretation — GWAS association lookup, eQTL evidence (GTEx), chromatin state (ENCODE), regulatory variant scoring (RegulomeDB, CADD), and TF-binding disruption. Use for non-coding GWAS hit interpretation, eQTL-based gene assignment, and regulatory mechanism reasoning. Distinct from coding-variant tools.

72

Quality

87%

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SecuritybySnyk

Low

Low-risk findings worth noting

SKILL.md
Quality
Evals
Security

Quality

Content

75%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.

The content is a well-structured, actionable regulatory-variant workflow: phased sequence, concrete tool parameters with gotchas, fallbacks, examples, and limitations. Its main gap is the absence of an actual executable Python code block to back the 'compute, don't describe' directive, plus no explicit gated validation checkpoints.

Suggestions

Add at least one concrete, copy-paste Python example (e.g., calling gwas_search_associations via the ToolUniverse client and filtering hits with pandas at p<5e-8) to make the 'COMPUTE, DON'T DESCRIBE' directive executable.

Insert explicit validation checkpoints in the workflow (e.g., after Phase 0 'confirm rsID resolves and nearest gene is non-null before querying eQTL') to lift workflow_clarity toward 5.

Tighten the 'Non-Coding Variant Impact Reasoning' and 'Functional Impact Synthesis' sections, which restate overlapping histone-mark and convergence criteria, to reduce token cost.

DimensionReasoningScore

Conciseness

The body is efficient and domain-specific (tool params, reasoning tips, fallbacks) with little generic padding; the four-question and synthesis sections restate some interpretation heuristics that could be tightened, keeping it just below a lean 5.

4 / 5

Actionability

Concrete tool names with exact params and gotchas ('EnsemblVEP_annotate_rsid (param is variant_id, not rsid)', 'p_value=5e-8') plus step-by-step example workflows make it mostly executable; it stops short of a 5 only because the 'COMPUTE, DON'T DESCRIBE' directive is never backed by an actual runnable code block.

4 / 5

Workflow Clarity

A clear Phase 0–6 sequence with a diagram and reactive Fallback Strategies gives a strong, mostly-checkpointed flow; it lacks explicit gated validation steps ('verify X before proceeding'), so it does not reach the checklist/feedback-loop richness of a 5.

4 / 5

Progressive Disclosure

No bundle files exist, so all content is one self-contained file with well-signaled section headers and no nested references — good structure with only minor inlining of tool reference detail that could live in a separate file.

4 / 5

Total

16

/

20

Passed

Description

100%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.

The description is exemplary: it concisely names the domain and several concrete capabilities with their backing tools, gives an explicit 'Use for...' trigger clause, and signals distinctiveness from sibling coding-variant skills. Every dimension lands at the top anchor with no fluff or over-claiming.

DimensionReasoningScore

Specificity

Lists multiple concrete actions with named tools — 'GWAS association lookup', 'eQTL evidence (GTEx)', 'chromatin state (ENCODE)', 'regulatory variant scoring (RegulomeDB, CADD)', 'TF-binding disruption' — giving comprehensive domain coverage rather than the 'minor gaps' of a 4.

5 / 5

Completeness

Explicitly states both what ('Non-coding/regulatory variant interpretation — GWAS association lookup, eQTL evidence...') and when ('Use for non-coding GWAS hit interpretation, eQTL-based gene assignment, and regulatory mechanism reasoning'), with concrete trigger phrases.

5 / 5

Trigger Term Quality

Natural domain terms a genomics user would say ('non-coding GWAS hit', 'eQTL-based gene assignment') plus the exact tool names users invoke (GTEx, ENCODE, RegulomeDB, CADD) provide comprehensive keyword coverage.

5 / 5

Distinctiveness Conflict Risk

Clear niche (non-coding/regulatory variants) with an explicit distinctiveness cue ('Distinct from coding-variant tools') and a sibling-skill NOT-for list in the body, giving minimal conflict risk.

5 / 5

Total

20

/

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.

Validation16 / 16 Passed

Validation for skill structure

No warnings or errors.

Repository
mims-harvard/ToolUniverse
Reviewed

Table of Contents

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