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variant-annotation

Query and annotate gene variants from ClinVar and dbSNP databases. \n\.

48

Quality

51%

Does it follow best practices?

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SecuritybySnyk

Passed

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tessl review fix ./scientific-skills/Evidence Insight/variant-annotation/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.

The content is strong on actionability with real executable code and concrete examples, but it is padded with redundant generic boilerplate and templating artifacts, and its workflow lacks explicit validation checkpoints for batch API operations. Progressive disclosure is mediocre because detailed material is inlined and references are not linked to specific files.

Suggestions

Cut the redundant generic sections (When to Use, Key Features, Implementation Details, Output Requirements, Response Template, Evaluation Criteria, Lifecycle Status) and remove the stray '\n\.' artifacts.

Add an explicit validation checkpoint to the workflow for batch_query results (e.g. verify API responses, retry on rate-limit, confirm each variant resolved).

Move the large ACMG criteria tables and full output-JSON example into references and link them by filename instead of inlining.

DimensionReasoningScore

Conciseness

The body is noticeably verbose: many redundant boilerplate sections (When to Use, Key Features, Implementation Details, Output Requirements, Response Template, Evaluation Criteria, Lifecycle Status, Risk Assessment, Security Checklist) repeat generic process advice Claude already knows, with filler like "See `## Prerequisites` above for related details." and stray "\n\." artifacts.

2 / 5

Actionability

It provides concrete, mostly executable guidance: a real `scripts/main.py`, a Python API example (`from scripts.main import VariantAnnotator`; `annotator.query_variant(...)`), CLI commands (`python scripts/main.py --variant rs80357410`), an input-format table, and a full output-JSON example, with only minor gaps such as the odd example directory path.

4 / 5

Workflow Clarity

A 5-step Workflow plus Error Handling and Input Validation sections give a rough sequence, but the steps are generic and lack concrete validation checkpoints; because batch_query is a batch operation with no explicit result-validation step, workflow clarity is capped at 3.

3 / 5

Progressive Disclosure

Bundle files exist (references/acmg-guidelines.md, clinvar-guide.md, example-variants.md, hgvs-nomenclature.md; scripts/main.py) and a References section points to them, but references are signaled generically ("See `references/` for...") without named file links, and large content like the ACMG criteria tables and output JSON is inlined rather than split out.

3 / 5

Total

12

/

20

Passed

Description

53%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.

The description states a clear, specific purpose and names concrete databases, giving it a distinct niche, but it lacks any explicit "when to use" trigger guidance and ends with a stray "\n\." templating artifact. Trigger-term coverage is decent but omits common synonyms.

Suggestions

Add an explicit 'Use when...' clause naming natural triggers (e.g. rsID/SNP lookup, HGVS notation, ClinVar/dbSNP queries).

Remove the trailing '\n\.' artifact and broaden trigger terms with synonyms like 'SNP', 'mutation', 'rsID', and 'HGVS'.

List one or two more concrete actions (e.g. ACMG pathogenicity classification, population frequency lookup) to lift specificity.

DimensionReasoningScore

Specificity

"Query and annotate gene variants from ClinVar and dbSNP databases" names the domain plus two concrete actions (query, annotate) and specific databases, but stops at 1-2 actions without comprehensive coverage.

3 / 5

Completeness

A clear "what" is present (query/annotate variants from ClinVar and dbSNP) but there is no "Use when..." clause, and the description ends with a broken "\n\." artifact instead of trigger guidance, capping completeness at 3.

3 / 5

Trigger Term Quality

"gene variants", "ClinVar", and "dbSNP" are relevant natural terms a genetics user would say, but common synonyms/variants like "SNP", "mutation", "rsID", or "HGVS" are missing.

3 / 5

Distinctiveness Conflict Risk

"Query and annotate gene variants from ClinVar and dbSNP databases" carves a clear niche (genetic variant annotation) with named databases, leaving only minor overlap risk with adjacent biomedical skills; not a 5 because no explicit trigger phrases sharpen the boundary.

4 / 5

Total

13

/

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.

Validation15 / 16 Passed

Validation for skill structure

CriteriaDescriptionResult

frontmatter_unknown_keys

Unknown frontmatter key(s) found; consider removing or moving to metadata

Warning

Total

15

/

16

Passed

Repository
aipoch/medical-research-skills
Reviewed

Table of Contents

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