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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.

Quality

87%

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SecuritybySnyk

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SKILL.md
Quality
Evals
Security

Quality

Content

71%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.

The body is an efficient, highly actionable operator's manual built around real API gotchas, executable code patterns, and a gated nine-step workflow with self-critique. Its main weakness is the broken reference layer: all docs/ paths cited (API reference, interpretation guide, report templates, golden examples) are missing from the bundle, and two bundle files are orphaned, so the skill cannot be followed end-to-end as shipped.

Suggestions

Include the docs/ tree (or fix the paths): docs/alphagenome-api.md, docs/interpretation-guide.md, docs/report-templates.md, and docs/examples/* are referenced as MANDATORY workflow inputs and report templates but do not exist in the bundle, so Steps 0, 5, and 6 cannot be executed as written.

Mention the orphaned bundle files in the body — reference references/citation.bib where AlphaGenome citation is appropriate and add scripts/generate_ontology_mapping.py to the Script Reference table so users can discover them.

Make the Extended Search code block self-contained (define or clearly annotate its dependence on the prior snippet's 'df') and consolidate the duplicated 'uv run' explanation into a single section to tighten token usage.

DimensionReasoningScore

Conciseness

The body is dense with non-obvious, hard-won operational knowledge (e.g., 'score_variant does NOT accept ontology_terms', 'GTF Feather file uses Capitalized column names', 'Sashimi does NOT accept a strand argument') and largely assumes Claude's competence. It falls at score 4 rather than 5 because of minor redundancy — the 'uv run' rule is explained twice (Core Rules and Environment Setup) — and the nested Splicing Zoom Strategy sub-list under References is over-detailed for its placement.

4 / 5

Actionability

The Broad Discovery Scan code block is complete and executable (dotenv loading, client creation, scorer filtering, ranked output) and commands like 'uv run --project $SKILL_DIR /tmp/my_analysis.py --arg1 val1' are copy-paste ready. It stays at 4 rather than 5 because the Extended Search snippet is a fragment depending on an undefined 'df', and the workflow steps point to template/doc files that are not present in the bundle, leaving minor execution gaps.

4 / 5

Workflow Clarity

The nine-step checklist is clearly sequenced with explicit mandatory gates ('Step 0: Review Golden Examples (MANDATORY)', 'Step 5: MANDATORY: Read interpretation-guide.md before interpreting results') and a self-critique validation step ('Step 7: Self-Critique... verify links & claims'), and Common Issues provides error-recovery guidance. It does not reach 5 because each step is a terse one-liner whose operational detail is deferred to doc files that are absent from the bundle, so the checkpoints cannot actually be followed as written.

4 / 5

Progressive Disclosure

The structure and signaling are good — one-level-deep references with descriptions and a script reference table — but checked against the actual bundle, every 'docs/' reference (alphagenome-api.md, interpretation-guide.md, report-templates.md, and all docs/examples/* directories) points to files that do not exist, while bundle files references/citation.bib and scripts/generate_ontology_mapping.py are never mentioned anywhere. Navigation is therefore broken at the most critical points, which is worse than the minor-gaps level of score 4 but not the inlined-wall-of-text pattern of score 2.

3 / 5

Total

15

/

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 in third person, provides an explicit 'Use when...' clause rich with natural user phrasings and synonyms, and defines a distinct niche with essentially no trigger-conflict risk. Both the 'what' and 'when' questions are answered clearly and concretely.

DimensionReasoningScore

Specificity

The description lists multiple concrete actions with explicit modalities — 'Analyzes genetic variant effects on gene expression (RNA-seq), chromatin accessibility (DNASE), histone marks (ChIP), and transcription factors using the AlphaGenome API' plus 'resolving biological terms to tissue/cell-type ontologies (UBERON/CL)'. This matches the comprehensive-coverage anchor; unlike the score-4 anchor there are no notable gaps — expression, accessibility, histone marks, TFs, splicing, ontology resolution, and variant-format parsing are all named.

5 / 5

Completeness

Both questions are answered explicitly: 'what' via 'Analyzes genetic variant effects on gene expression (RNA-seq)... using the AlphaGenome API' and 'when' via the explicit trigger clause 'Use when the user asks about...' with concrete trigger phrases. Voice is third person ('Analyzes', 'resolving'), so no penalty applies; it clearly matches the both-what-and-when-with-concrete-triggers anchor.

5 / 5

Trigger Term Quality

It includes the natural phrases a user would actually say — 'non-coding variant effects', 'pathogenicity', 'clinical significance', 'disease associations', 'splicing disruption', 'regulatory effects in promoters and enhancers' — plus the concrete input format 'chr:pos:ref>alt' and ontology names (UBERON/CL). This is comprehensive coverage including synonyms and format identifiers, matching the score-5 anchor rather than the 'a few natural terms missing' score-4 anchor.

5 / 5

Distinctiveness Conflict Risk

It carves out a clear niche (AlphaGenome API variant effect analysis and UBERON/CL ontology resolution) with distinct, domain-specific triggers that no generic bioinformatics or document skill would match. Compared to the score-4 anchor ('minor overlap risk with closely related skills'), the specificity of the API name, modalities, and variant format leaves minimal conflict risk.

5 / 5

Total

20

/

20

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.

Validation — 15 / 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

Path

skills/alphagenome_single_variant_analysis/SKILL.md

Reviewed

Table of Contents

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