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tooluniverse-phewas

Cross-ancestry / cross-biobank phenome-wide association (PheWAS) and replication. Given ONE variant (rsID) or ONE gene, look up every phenotype it associates with across European/UK (UKB-TOPMed), Finnish (FinnGen), Japanese (BioBank Japan), and Taiwanese (TPMI) biobanks, plus exome-wide gene-burden PheWAS (Genebass), then judge whether an association replicates across ancestries or is population-specific. Use whenever the user asks "what else is this variant/gene associated with", "does this association replicate in other ancestries / biobanks", "is this effect East-Asian-specific", "pleiotropy of rsXXX", "phenome scan", or wants to compare effect sizes/allele frequencies of a variant across populations. NOT for the forward direction (trait → which SNPs: use the gwas-* skills), NOT for fine-mapping a locus (use tooluniverse-gwas-finemapping), and NOT for single-SNP mechanism tracing in one population (use tooluniverse-gwas-snp-interpretation).

76

Quality

95%

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SKILL.md
Quality
Evals
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Quality

Content

88%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 strong, highly actionable knowledge skill: the biobank panel table, exact tool signatures, interpretation matrix, and report template give Claude everything needed to execute a cross-ancestry PheWAS end-to-end. The only slack is modest verbosity in the worked example and inline placement of content that could be offloaded to reference files.

Suggestions

Move the worked example (rs7903146/TCF7L2) and the BioBank Japan catalogue note into a references/ file (e.g. references/examples.md), keeping a one-line pointer in SKILL.md, to tighten progressive disclosure and the token budget.

Trim caveats that appear in both the interpretation table and the Limitations section (e.g. power/allele-frequency and build notes) to a single canonical statement with cross-reference.

DimensionReasoningScore

Conciseness

The body is dense with genuinely non-obvious operational detail (the FinnGen rsID exception, BBJ's GRCh37 build, the `pval: 0.0` underflow trap) and doesn't pad with concepts Claude already knows. It falls at level 4 rather than 5 because the ~200-word worked-example paragraph and some caveats repeated across the interpretation table and Limitations could be trimmed without losing operational value.

4 / 5

Actionability

Guidance is fully executable: copy-paste-ready calls with exact parameters (`UKBTOPMed_phewas_by_variant(rsid="rs7903146", max_pval=5e-8, limit=25)`, `Genebass_gene_burden_phewas(gene="PCSK9", burden_set="pLoF", max_pval=2.5e-6, limit=25)`), the required FinnGen `chr:pos:ref:alt` format with an example, and a fill-in report template. The worked example covers both common cases (variant-level and gene-burden).

5 / 5

Workflow Clarity

Five clearly sequenced steps with a decision point at Step 1 (variant-level vs gene-level), an interpretation table that functions as a checklist, and explicit verification loops such as "verify the ref/alt allele each biobank reported before interpreting" and "check `af` and `num_cases` before concluding biology". These feedback loops match the level-5 anchor; the operations are read-only lookups so no destructive-operation cap applies.

5 / 5

Progressive Disclosure

The file is well-sectioned with clean header navigation and no nested references, but it is ~96 lines with the worked example and the BBJ catalogue note inlined where they could live in a separate reference file. This matches the level-4 anchor (good structure, minor organization gaps); the level-5 anchor requires well-signaled one-level-deep references or a lean under-50-line overview.

4 / 5

Total

18

/

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.

An exemplary description: it states concrete capabilities with named tools and biobanks, provides natural verbatim trigger phrases, answers both 'what' and 'when' explicitly, and preempts confusion with negatively-scoped boundaries against neighboring GWAS skills. All four dimensions sit at the top anchor.

DimensionReasoningScore

Specificity

The description lists multiple concrete actions with named tools and biobanks: "look up every phenotype it associates with across European/UK (UKB-TOPMed), Finnish (FinnGen), Japanese (BioBank Japan), and Taiwanese (TPMI) biobanks, plus exome-wide gene-burden PheWAS (Genebass), then judge whether an association replicates across ancestries or is population-specific" and "compare effect sizes/allele frequencies of a variant across populations". This matches the comprehensive-coverage anchor; the level-4 anchor would require minor gaps in the action inventory, which are not evident.

5 / 5

Completeness

Both what (cross-biobank PheWAS lookup across four named ancestries plus a gene-burden layer, then replication judgment) and when ("Use whenever the user asks...") are explicit, with concrete trigger phrases plus explicit NOT-for boundaries. This is the level-5 pattern; level 4 would require a less explicit or specific 'when' clause, which is not the case here.

5 / 5

Trigger Term Quality

It quotes natural user phrases verbatim — "what else is this variant/gene associated with", "does this association replicate in other ancestries / biobanks", "is this effect East-Asian-specific", "pleiotropy of rsXXX", "phenome scan" — covering synonyms and paraphrases users would actually say, which exceeds the good-coverage-but-few-missing level 4 anchor.

5 / 5

Distinctiveness Conflict Risk

The description explicitly disambiguates adjacent skills — "NOT for the forward direction (trait → which SNPs: use the gwas-* skills), NOT for fine-mapping a locus (use tooluniverse-gwas-finemapping), and NOT for single-SNP mechanism tracing in one population (use tooluniverse-gwas-snp-interpretation)" — giving it a clear niche with minimal conflict risk, matching the level-5 anchor rather than the minor-overlap level 4 anchor.

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.

Validation — 16 / 16 Passed

Validation for skill structure

No warnings or errors.

Repository
mims-harvard/ToolUniverse
Reviewed

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