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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

88%

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 content with concrete tool usage and error-recovery guidance. The main weaknesses are some redundant biology explanation and a monolithic structure that keeps everything inline rather than progressively disclosing detail into reference files.

Suggestions

Trim the histone-mark and eQTL-NES biology primer in 'Non-Coding Variant Impact Reasoning' — Claude already knows H3K27ac/H3K4me3 semantics; keep only the tool-specific interpretation guidance.

Move the two 'Example Workflows' (and optionally the per-phase reference) into a references/ file linked from the workflow overview, so SKILL.md stays a lean overview with one-level-deep disclosure.

Consider extracting the per-tool parameter callouts (e.g. variant_id vs rsid, assay_title='TF ChIP-seq') into a short reference table to reduce inline density.

DimensionReasoningScore

Conciseness

Mostly efficient and packed with valuable non-obvious param gotchas (e.g. 'param is variant_id, not rsid', 'assay_title="TF ChIP-seq"'), but the histone-mark primer ('H3K27ac signals active enhancers...') restates biology Claude already knows and could be trimmed.

2 / 3

Actionability

Gives exact tool names, exact parameter names with common-mistake callouts, per-phase reasoning tips, fallback strategies, and concrete example workflow calls — fully executable, copy-paste-ready guidance.

3 / 3

Workflow Clarity

A clear Phase 0–6 sequence with a workflow diagram, per-phase reasoning checkpoints, an explicit evidence-grading synthesis step, and fallback error-recovery loops for empty results.

3 / 3

Progressive Disclosure

The body is well-sectioned and navigable, but it is a monolithic single file with no bundle references; the detailed phase docs, example workflows, and fallback strategies are inline content that could be split into one-level-deep reference files.

2 / 3

Total

10

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12

Passed

Description

100%

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, provides an explicit 'Use for' trigger, and clearly distinguishes itself from coding-variant skills. All four dimensions land at the top anchor.

DimensionReasoningScore

Specificity

Lists multiple concrete actions — 'GWAS association lookup, eQTL evidence (GTEx), chromatin state (ENCODE), regulatory variant scoring (RegulomeDB, CADD), and TF-binding disruption' — matching the score-3 anchor of several specific actions.

3 / 3

Completeness

Explicitly answers both what (the five analysis actions) and when via the 'Use for non-coding GWAS hit interpretation, eQTL-based gene assignment...' trigger clause, satisfying the score-3 anchor.

3 / 3

Trigger Term Quality

Natural domain terms a genomics user would actually say appear throughout — 'non-coding GWAS hit interpretation', 'eQTL-based gene assignment', 'regulatory mechanism reasoning' — giving good coverage rather than generic jargon.

3 / 3

Distinctiveness Conflict Risk

The non-coding/regulatory niche is sharply scoped and 'Distinct from coding-variant tools' explicitly separates it from sibling variant skills, making wrong-skill triggering unlikely.

3 / 3

Total

12

/

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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