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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), TF-binding disruption, and sequence-based deep-learning prediction (AlphaGenome/AlphaGenome Atlas) for when annotation databases are silent. Use for non-coding GWAS hit interpretation, eQTL-based gene assignment, and regulatory mechanism reasoning. Distinct from coding-variant tools.

68

Quality

81%

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SKILL.md
Quality
Evals
Security

Quality

Content

70%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 well-structured, highly actionable tool-dispatch skill with an explicitly sequenced workflow and genuine error-recovery loops. Its weaknesses are redundancy — the AlphaGenome 'annotation-silent' narrative is repeated across five sections — and the absence of any reference files, leaving example workflows and tool parameter detail inlined in an overlong single file.

Suggestions

Consolidate the AlphaGenome/annotation-silent narrative, which currently appears in the five-questions section, Phase 0.5, Phase 4.5, Phase 5, and Fallback Strategies — state it once (Phase 4.5) and cross-reference it elsewhere to cut substantial token cost.

Move the four example workflows into a references/ file (e.g., references/examples.md) and the per-tool parameter details into references/tools.md, keeping SKILL.md as a concise phase overview with one-level-deep pointers.

Replace placeholder arguments in the example workflows (chromosome=..., position=...) with one fully specified real call each (e.g., the rs429358 APOE example with concrete coordinates) so the examples are copy-paste executable.

DimensionReasoningScore

Conciseness

The body is mostly efficient but could be tightened: the 'annotation-silent / AVI_SCORE' narrative is explained at length in five places (the five-questions section, Phase 0.5, Phase 4.5, Phase 5, Fallback Strategies), and lines like 'H3K27ac signals active enhancers and active promoters; H3K4me1 alone marks poised enhancers' re-teach histone-mark basics Claude already knows. It is not 2 because there is no library-installation-style padding and most sections (phase descriptions, fallbacks, limitations) earn their tokens.

3 / 5

Actionability

Guidance is mostly concrete and executable: exact tool names with parameters ('gwas_search_associations ... Use p_value=5e-8'), parameter gotchas ('param is variant_id, not rsid', 'Use assay_title="TF ChIP-seq" (not just "ChIP-seq")'), and window limits ('≤500 bp', 'up to 1 Mb'). It is not 5 because the worked examples use placeholder arguments (chromosome=..., position=...) rather than fully specified calls, leaving minor gaps.

4 / 5

Workflow Clarity

The phased workflow (0 through 6) is clearly sequenced with explicit entry conditions and error-recovery feedback loops: Phase 4.5 runs 'when either condition holds: (a) Phases 1-4 came back empty or weak ... or (b) Phase 0.5's AVI_SCORE was high', and the Fallback Strategies section gives per-tool recovery actions for empty results (e.g., 'GWAS Catalog returns empty: Switch from free-text disease_trait to efo_id'). Not 4 because checkpoints are explicit rather than implicit, and Phase 5 provides a graded decision checklist.

5 / 5

Progressive Disclosure

Sections are clearly headed and navigable, but the skill is a single ~280-line file with no references/ bundle; content that clearly belongs in separate files is inlined (four full example workflows, per-tool parameter details). It is not 2 because the inlined material is well-sectioned, not a monolithic reference dump; it is not 4 because the examples and tool specifics could be split into one-level-deep reference files that do not exist.

3 / 5

Total

15

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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: specific, tool-named capabilities paired with an explicit 'Use for' clause and an explicit boundary statement against coding-variant skills. The only gap is a handful of natural trigger synonyms that users might say but that are absent from the text.

DimensionReasoningScore

Specificity

The description lists multiple specific concrete actions — 'GWAS association lookup, eQTL evidence (GTEx), chromatin state (ENCODE), regulatory variant scoring (RegulomeDB, CADD), TF-binding disruption, and sequence-based deep-learning prediction (AlphaGenome/AlphaGenome Atlas)' — each backed by named tools, matching the comprehensive-coverage anchor. It is not score 4 because coverage spans the full capability set with no minor gaps.

5 / 5

Completeness

It explicitly answers both questions: 'what' via the detailed capability list and 'when' via the concrete trigger clause 'Use for non-coding GWAS hit interpretation, eQTL-based gene assignment, and regulatory mechanism reasoning.' Both are explicit with concrete trigger phrases, matching the top anchor; not 4 because the 'when' clause is not merely present but specific and multi-scenario.

5 / 5

Trigger Term Quality

Good keyword coverage including natural domain terms users would say ('non-coding GWAS hit', 'eQTL-based gene assignment', 'regulatory variant', 'GWAS association') plus tool synonyms (GTEx, ENCODE, RegulomeDB, CADD, AlphaGenome). A few natural trigger terms are missing (e.g., 'enhancer', 'promoter', 'intronic variant', 'fine-mapping'), so it does not reach the comprehensive-with-synonyms anchor of 5.

4 / 5

Distinctiveness Conflict Risk

It carves a clear niche (non-coding/regulatory variant interpretation) and explicitly states the boundary — 'Distinct from coding-variant tools' — which minimizes conflict risk with the sibling coding-variant skills. Clear niche with distinct triggers matches the 5 anchor.

5 / 5

Total

19

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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
Reviewed

Table of Contents

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