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ngs-dna-germline-variants

Run or plan deep germline WGS, WES, targeted-panel, cohort, or trio variant-calling workflows with reference-build, known-sites, QC, joint-calling, and annotation checks.

64

Quality

81%

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SKILL.md
Quality
Evals
Security

Quality

Content

82%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 dense, expert-level operational skill: concrete commands, explicit decision rules, and honest scoping ('Treat this as a focused samtools/bcftools run envelope, not as a substitute for full cohort... workflows'). Its main gaps are the absence of error-recovery feedback loops when QC or readiness checks fail, and unspecified prerequisites (sample-sheet format, external script availability).

Suggestions

Add an explicit feedback loop after preflight/QC: what to do when --require-resource-plan readiness fails, contamination is detected, or execution is blocked by missing tools (e.g., re-run readiness, report the packaged validation state, or fall back to the compact runner).

Specify or link the dna_samples.tsv sample-sheet format (required columns, singleton/cohort/trio representation) so the commands are fully executable without guesswork.

Clarify where the referenced scripts live (bundle path vs. project path) and whether they must be verified to exist before invoking, closing the actionability and navigation gaps.

DimensionReasoningScore

Conciseness

The body is lean and operational throughout — it never explains concepts Claude already knows (no definition of BQSR, joint genotyping, or Ti/Tv), and every section (Essential Inputs, Route, Decision Points, Outputs) carries actionable content. Not 4: there is no over-explanatory sentence to trim; each token earns its place.

5 / 5

Actionability

Three complete, copy-paste-ready commands with concrete flags ('ngs_preflight.py --pipeline dna_germline_variants --emit-install-plan', 'run_dna_germline_variants.py ... --known-sites dbsnp.vcf.gz --emit-gvcf --joint-call --execute') plus concrete decision rules. Not 5: the referenced scripts live outside the skill bundle, the sample-sheet (dna_samples.tsv) format is never specified, and no worked example with real inputs/outputs is given, leaving minor execution gaps.

4 / 5

Workflow Clarity

A clear sequence exists — confirm Essential Inputs, run the preflight, route to sarek or the local runners, then apply Decision Points and produce Outputs — with validation checkpoints (preflight --emit-install-plan, 'Check sample identity, sex concordance, contamination, coverage...', resource_readiness.md). Not 5: there is no explicit feedback loop for what to do when QC/contamination checks fail or execution is blocked; not 3: validation steps are present for this batch operation, so the batch-operation cap does not apply.

4 / 5

Progressive Disclosure

Sections are clean and well-organized with nothing bulk-inlined that belongs in a separate file, and no bundle files exist so no nested references. Not 5: the body is ~76 lines (above the under-50 simple-skill exemption) and the referenced execution scripts (plugins/ngs-analysis/scripts/*.py) are neither part of a bundle nor presented as navigable links, a minor organization gap matching the 'most content appropriately placed' anchor at 4.

4 / 5

Total

17

/

20

Passed

Description

70%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.

A specific, well-scoped description with strong domain trigger terms, but it omits any 'Use when...' trigger clause, capping completeness. Adding an explicit when-to-use clause (and a germline-vs-somatic boundary cue) would lift it substantially.

Suggestions

Append an explicit trigger clause such as: 'Use when the user mentions germline, inherited, WGS, WES, panel, cohort, or trio variant calling, or provides FASTQ/BAM/CRAM for germline analysis; for tumor-only or tumor-normal somatic calls, use a somatic skill instead.'

Name the concrete output artifacts (VCF/gVCF, QC reports, annotations) in the 'what' portion to raise specificity from several actions to comprehensive coverage.

Add common synonyms such as 'joint genotyping', 'gVCF', and file extensions (.vcf, .bam, .fastq) to broaden natural trigger-term coverage.

DimensionReasoningScore

Specificity

The description lists several specific actions — 'Run or plan deep germline WGS, WES, targeted-panel, cohort, or trio variant-calling workflows' plus 'reference-build, known-sites, QC, joint-calling, and annotation checks' — with only minor gaps (no output artifacts like VCF/gVCF named). Not 5: the anchor-5 example enumerates more distinct concrete actions; not 3: it goes well beyond naming the domain with 1-2 actions.

4 / 5

Completeness

The 'what' is clear (run/plan germline variant-calling workflows with QC, joint-calling, and annotation checks), but there is no 'Use when...' clause or equivalent explicit trigger guidance, which caps completeness at 3 per the judging guidelines. Not 2: the 'what' is concrete rather than vague; not 4: no 'when' is stated or implied.

3 / 5

Trigger Term Quality

'germline WGS, WES, targeted-panel, cohort, trio variant-calling' covers the natural phrases genomics users say, with a few natural terms missing (e.g., 'gVCF', 'joint genotyping', file extensions like .vcf/.bam). Fits the 'good keyword coverage; a few natural terms missing' anchor rather than the fully comprehensive anchor at 5.

4 / 5

Distinctiveness Conflict Risk

'deep germline WGS, WES, targeted-panel, cohort, or trio variant-calling' carves out a clear niche with distinct triggers and minimal conflict risk — the germline framing distinguishes it from somatic or UMI-panel skills. Not 4: no meaningful overlap with related skills remains given the explicit subdomain scoping.

5 / 5

Total

16

/

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

openai/plugins

Path

plugins/ngs-analysis/skills/ngs-dna-germline-variants/SKILL.md

Reviewed

Table of Contents

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