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tooluniverse-gwas-snp-interpretation

Interpret genetic variants (SNPs) from GWAS studies by aggregating evidence from multiple databases (GWAS Catalog, Open Targets Genetics, ClinVar). Retrieves variant annotations, GWAS trait associations, fine-mapping evidence, locus-to-gene predictions, and clinical significance. Use when asked to interpret a SNP by rsID, find disease associations for a variant, assess clinical significance, or answer questions like "What diseases is rs429358 associated with?" or "Interpret rs7903146".

60

Quality

75%

Does it follow best practices?

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SecuritybySnyk

Passed

No findings from the security scan

Fix and improve this skill with Tessl

tessl review fix ./skills/bio/tooluniverse-gwas-snp-interpretation/SKILL.md
SKILL.md
Quality
Evals
Security

Quality

Content

50%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 thorough, well-structured skill body that names tools, parameters, and outputs concretely, but it is somewhat redundant, lacks executable invocation examples and in-workflow validation, and carries a dangling reference to a missing QUICK_START.md.

Suggestions

Add a copy-paste-ready example showing an actual tool call (e.g. gwas_get_snp_by_id with rs_id) instead of relying on the workflow diagram alone.

Embed validation checkpoints in the workflow — e.g. "If associations list is empty, report no findings and stop" — rather than isolating error handling in a separate section.

Either create the referenced QUICK_START.md in ./references/ or remove the dangling reference so navigation is not broken.

Deduplicate overlapping sections (Overview / What It Does / Workflow / Tools Used) to reduce token cost.

DimensionReasoningScore

Conciseness

Mostly efficient and well-sectioned, but the Overview duplicates the frontmatter description and several sections (What It Does vs. Workflow vs. Tools Used) restate the same steps; could be tightened without losing clarity.

3 / 5

Actionability

Names concrete tools and a full parameter spec with defaults plus output JSON shapes, but the workflow is presented as a diagram rather than executable call examples, leaving the actual invocation pattern implicit.

3 / 5

Workflow Clarity

A clear 5-step sequence is given, but validation checkpoints are not embedded in the workflow — error handling lives in a separate section and there is no "if no associations, stop" gate for the batch retrieval step.

3 / 5

Progressive Disclosure

Good section structure, but the body references QUICK_START.md ("See QUICK_START.md for platform-specific examples") which does not exist in any bundle directory, and detailed output-format/reference content that could be split out is inlined.

3 / 5

Total

12

/

20

Passed

Description

88%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, specific description that clearly states capabilities and provides concrete, natural trigger phrases including example queries. Minor room to broaden trigger synonyms and tighten distinctiveness from generic variant-interpretation skills.

DimensionReasoningScore

Specificity

Lists multiple concrete actions — "Retrieves variant annotations, GWAS trait associations, fine-mapping evidence, locus-to-gene predictions, and clinical significance" — across named databases, giving comprehensive coverage of the skill's capabilities.

5 / 5

Completeness

Explicitly answers both what ("Interpret genetic variants (SNPs) ... Retrieves ...") and when ("Use when asked to interpret a SNP by rsID ... or answer questions like ...") with concrete trigger phrases.

5 / 5

Trigger Term Quality

Strong natural coverage ("interpret a SNP by rsID", "find disease associations for a variant", "assess clinical significance", plus example queries "What diseases is rs429358 associated with?"), but a few common phrasings (e.g. "GWAS variant", "trait association") are absent.

4 / 5

Distinctiveness Conflict Risk

The GWAS/disease-association niche is clear and well-scoped, with a minor overlap risk against general variant-annotation or variant-effect-prediction skills that also "interpret" a variant.

4 / 5

Total

18

/

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

wu-yc/LabClaw

Path

skills/bio/tooluniverse-gwas-snp-interpretation/SKILL.md

Reviewed

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