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variant-annotation

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

52

Quality

65%

Does it follow best practices?

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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 body contains strong, verified domain content (usage examples matching the real script, ACMG criteria, data-source and limitation sections), but it is wrapped in a large amount of generic template boilerplate that inflates token cost without adding guidance. Navigation to the existing reference files is weak, and the batch-mode workflow lacks validation feedback loops.

Suggestions

Delete the boilerplate sections (Key Features, Dependencies, Example Usage, Implementation Details, Output Requirements, Response Template, Input Validation) and their 'See ## X above' filler, keeping only the domain-specific content; deduplicate the py_compile check into one section.

Replace the vague 'See `references/` for...' list with explicit per-file links (e.g., 'ACMG criteria details: [references/acmg-guidelines.md]') and move the inlined ACMG criteria tables there.

Fix the placeholder `cd` path, the incorrect 'Required' flags in the parameters table, and the missing `requirements.txt` reference; add an output-validation step for batch mode (e.g., verify each result has a parsed variant_id before writing the output file).

DimensionReasoningScore

Conciseness

The ~390-line body contains many padded boilerplate sections that add no domain value: 'Key Features' ('Scope-focused workflow aligned to...', 'Structured execution path...'), self-referential navigation filler ('See `## Prerequisites` above for related details', 'See `## Usage` above', 'See `## Workflow` above'), and the same `python -m py_compile scripts/main.py` check repeated in three sections. Generic template sections ('Output Requirements', 'Response Template', 'Input Validation') occupy roughly a third of the file alongside the genuinely useful variant-annotation content.

2 / 5

Actionability

The Python API example matches the packaged script (verified: `VariantAnnotator`, `query_variant`, `batch_query` in scripts/main.py), CLI commands are concrete (`python scripts/main.py --variant rs80357410`), and the JSON output example plus parameters table align with the actual argparse interface. Minor gaps: the hardcoded `cd "20260318/scientific-skills/Evidence Insight/variant-annotation"` path is not the real location, and the parameters table marks `--file`/`--output` as 'Required' though they are optional in code, with empty Description cells for several rows.

4 / 5

Workflow Clarity

The 'Workflow' section lists a sequenced 5-step process with a fallback path ('If execution fails or inputs are incomplete, switch to the fallback path'), but the steps are generic template text rather than the domain-specific pipeline (parse HGVS -> query ClinVar/dbSNP -> compute ACMG score -> format output). The skill supports batch operations (`batch_query`, `--file variants.txt`) with no output-validation or retry feedback loop, which caps workflow clarity at 3 per the batch-operations rule.

3 / 5

Progressive Disclosure

A references/ bundle exists (acmg-guidelines.md, clinvar-guide.md, hgvs-nomenclature.md, example-variants.md) and is only one level deep, but the body points to it only vaguely ('See `references/` for: ACMG guidelines publication, ClinVar documentation...') without filename links, lists a 'dbSNP data dictionary' that has no corresponding file, and references a `requirements.txt` that is missing from the bundle. Meanwhile the full ACMG criteria tables and thresholds are inlined even though references/acmg-guidelines.md already exists to hold that detail — content that should be separate is inline.

3 / 5

Total

12

/

20

Passed

Description

65%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 is domain-specific and distinct, with good natural trigger keywords, but it is one sentence with only two actions, no 'Use when' trigger clause, and a corrupted trailing '\n\.' artifact. Expanding the capability list and adding explicit trigger guidance would move it up a full level.

Suggestions

Add a 'Use when...' clause with concrete triggers, e.g., 'Use when the user mentions a variant, rsID, HGVS notation, ClinVar, dbSNP, or asks about pathogenicity or ACMG classification.'

Enumerate more of the skill's actual capabilities (ACMG classification, population frequencies from gnomAD/1000G, functional predictions) to lift specificity.

Remove the corrupted trailing '\n\.' text from the description string.

DimensionReasoningScore

Specificity

'Query and annotate gene variants from ClinVar and dbSNP databases' names the domain plus two concrete actions (query, annotate) and two concrete sources, but omits the skill's other documented capabilities (ACMG classification, population frequencies, HGVS parsing, functional predictions) — so coverage gaps are not minor. It sits above 'names the domain but actions are minimal' (2) yet does not list several specific actions, fitting the 1-2-concrete-actions anchor; the trailing '\n\.' is corrupted text rather than content.

3 / 5

Completeness

It clearly answers 'what' (query and annotate gene variants from ClinVar and dbSNP) but contains no 'Use when...' clause or equivalent trigger guidance, capping completeness at 3 per the rubric guideline. The 'what' is clear and specific, keeping it above the vague-what level of 2, but no usage triggers approach the explicit 'when' of a 4 or 5.

3 / 5

Trigger Term Quality

Includes strong natural domain keywords users would actually say: 'gene variants', 'ClinVar', 'dbSNP', 'annotate', 'query'. A few common natural terms are missing (e.g., 'rsID', 'HGVS', 'pathogenicity', 'clinical significance', 'SNP'), matching 'good keyword coverage; a few natural terms missing' rather than the comprehensive synonym coverage of a 5.

4 / 5

Distinctiveness Conflict Risk

Naming two specific databases (ClinVar, dbSNP) carves out a clear niche in variant annotation with minimal overlap risk against generic genomics or literature-search skills. Triggers like 'ClinVar' or 'dbSNP' would not naturally route to any other skill, matching the clear-niche anchor.

5 / 5

Total

15

/

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

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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