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alphagenome-single-variant-analysis

Analyzes genetic variant effects on gene expression (RNA-seq), chromatin accessibility (DNASE), histone marks (ChIP), and transcription factors using the AlphaGenome API. Use when the user asks about non-coding variant effects, pathogenicity, clinical significance, disease associations, functional effects, gene expression changes, splicing disruption, or regulatory effects in promoters and enhancers. Also use for resolving biological terms to tissue/cell-type ontologies (UBERON/CL) or analyzing variants in chr:pos:ref>alt format.

72

Quality

88%

Does it follow best practices?

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SecuritybySnyk

Passed

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SKILL.md
Quality
Evals
Security

Quality

Content

77%Weight 40%Scale 1-3

Reviews the quality of instructions and guidance provided to agents. Good implementation is clear, handles edge cases, and produces reliable results.

The body is lean, actionable, and well-sequenced with a strong validation checklist, but its usefulness is undercut by references to a missing `docs/` directory. Fixing those reference paths would lift both actionability and progressive disclosure.

Suggestions

Restore or create the referenced docs/ files (interpretation-guide.md, report-templates.md, alphagenome-api.md, and the examples/ subfolders) so the in-body links resolve.

Add the existing scripts/generate_ontology_mapping.py to the Script Reference table, since it is present but undocumented.

Verify every markdown link target against the bundle and drop or redirect any path that has no corresponding file.

DimensionReasoningScore

Conciseness

The body is dense but high-signal: hard-won gotchas (column names, strand errors, ontology_curie KeyErrors) and executable patterns rather than generic concept explanations Claude already knows. It assumes competence and avoids padding.

3 / 3

Actionability

Provides executable `uv run` commands and complete code blocks, but several in-body references point to a `docs/` tree (e.g. docs/interpretation-guide.md, docs/report-templates.md, docs/examples/) that is not present in the bundle, so key guidance is not actually reachable as written.

2 / 3

Workflow Clarity

The Workflow Checklist is an explicit sequenced list with MANDATORY markers and a Step 7 self-critique that re-reads report.md to verify links and claims, giving a clear validate-then-fix feedback loop.

3 / 3

Progressive Disclosure

Structure is well organized with one-level references, but the frequently-cited `docs/` paths do not exist in the bundle while scripts do, so navigation is partly broken and references are not verified against the actual file tree.

2 / 3

Total

10

/

12

Passed

Description

100%Weight 40%Scale 1-3

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 specific, trigger-rich, and clearly delineates both capability and invocation conditions, with no fluff or over-claims. It is a strong example of a well-scoped skill description.

DimensionReasoningScore

Specificity

Lists multiple concrete actions ('Analyzes genetic variant effects on gene expression (RNA-seq), chromatin accessibility (DNASE), histone marks (ChIP), and transcription factors') tied to a specific API, matching the 'lists multiple specific concrete actions' anchor.

3 / 3

Completeness

Explicitly answers both what (analyzes variant effects across modalities via AlphaGenome) and when via a clear 'Use when the user asks about...' trigger clause, satisfying the top anchor.

3 / 3

Trigger Term Quality

Strong natural-language coverage users would actually say — 'non-coding variant effects, pathogenicity, clinical significance, disease associations, functional effects, gene expression changes, splicing disruption, regulatory effects' — plus the concrete 'chr:pos:ref>alt format'.

3 / 3

Distinctiveness Conflict Risk

Narrow niche (single-variant AlphaGenome analysis with specific ontology and chr:pos:ref>alt triggers) makes it unlikely to fire for unrelated skills; clearly distinguishable.

3 / 3

Total

12

/

12

Passed

Validation

93%

Checks the skill against the spec for correct structure and formatting. All validation checks must pass before discovery and implementation can be scored.

Validation15 / 16 Passed

Validation for skill structure

CriteriaDescriptionResult

relative_links

Relative link issues: 10 missing, 6 deeper-than-1-level

Warning

Total

15

/

16

Passed

Repository
google-deepmind/science-skills
Reviewed

Table of Contents

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