bio-copy-number-germline-cnv-interpretation

bio-copy-number-germline-cnv-interpretation is a skill for Claude Code, Codex from GPTomics/bioSkills. It costs 154 tokens per session (2,807 once invoked), scanned A, original, MIT.

A workflow for classifying inherited copy-number variants using the 2019 ACMG/ClinGen clinical guidelines. Copy-number variants are deletions or duplications of sections of DNA, and inherited variants are present in the body's cells rather than arising only in a tumor.

In plain words
What is it for?
Use it to score constitutional copy-number losses and gains with ClassifyCNV and AnnotSV for clinical reporting.
Why use it?
Clinical interpretation requires different evidence rules for losses and gains, and outdated dosage databases can produce incorrect scores. This provides a points-based path to one of five classification levels.

Skill for Claude CodeCodex

Written for no agent in particular: nothing here depends on one.

Good fit Use it to score constitutional copy-number losses and gains with ClassifyCNV and AnnotSV for clinical reporting.

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Install with agentmods
npx agentmods add skills/gptomics/bioskills/germline-cnv-interpretation
Install

Getting it into your agent

One page per mod, every tool's command on it. A separate URL per tool would split the same page into five that compete with each other.

Any agent
npx skills add GPTomics/bioSkills --skill germline-cnv-interpretation
Clone the repo
git clone --depth 1 https://github.com/GPTomics/bioSkills

Made for: Claude Code, Codex.

Wrote this? Show the measurements

A badge with what this costs and how it scanned, read live from this page, so it follows the numbers instead of freezing them. Markdown for a README, HTML for a documentation site or a project page.

agentmods badge for bio-copy-number-germline-cnv-interpretation

README.md
[![agentmods](https://agentmods.dev/badge/skills/gptomics/bioskills/germline-cnv-interpretation/github.svg)](https://agentmods.dev/skills/gptomics/bioskills/germline-cnv-interpretation)
Your own site
<a href="https://agentmods.dev/skills/gptomics/bioskills/germline-cnv-interpretation"><img src="https://agentmods.dev/badge/skills/gptomics/bioskills/germline-cnv-interpretation/github.svg" alt="Measured on agentmods" height="20"></a>

Or the 80×15 button, for a site that already has a row of RSS and ATOM ones. Only the verdict fits; the numbers stay here.

agentmods 80×15 button for bio-copy-number-germline-cnv-interpretation

Your own site · 80×15
<a href="https://agentmods.dev/skills/gptomics/bioskills/germline-cnv-interpretation"><img src="https://agentmods.dev/badge/skills/gptomics/bioskills/germline-cnv-interpretation.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 154 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 2,807 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 0 findings. A grade says what 26 rules found in the file — not that it is safe.
Origin original No closer match found in the catalogue.
Token cost

What it costs to keep this loaded

Counted locally with the o200k_base tokenizer, which is exact for GPT models; Claude uses its own tokenizer and its counts differ. Treat this as one consistent yardstick across the catalogue rather than a bill. Prices are per million input tokens.

ModelPer sessionOnce invoked
Fable 5.1 $0.00154 $0.02807
Opus 5 $0.00077 $0.01404
Sonnet 5 $0.00031 $0.00561
Haiku 4.5 $0.00015 $0.00281

Measured 7d ago against content hash 6c01c7d0182a, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-10, from the pricing page.

Security

Grade A, and why

bio-copy-number-germline-cnv-interpretation scanned grade A with 0 findings against 26 rules in 11 categories — prompt injection, anti-refusal, data exfiltration, privilege escalation, supply chain, agent snooping, system-prompt leakage, SSRF and excessive agency — measured 7d ago.

The scan reads SKILL.md. This mod also ships 1 executable file (examples/classify_germline_cnv.py), listed below but not scanned — reading those needs a real analyzer, not pattern matching.

A static scan of the body, not an audit. Every finding is printed with the line that produced it so you can judge whether it matters here. A mod is markdown that instructs an agent; that is exactly why what it instructs is worth reading.

Nothing flagged

None of the 26 patterns this scan looks for appear in this file: no shell pipes, no recursive deletes, no credential paths, no hidden text, no instruction-override or anti-refusal phrasing, no agent-config snooping. That is not a guarantee, it is the absence of the things that are checkable.

Origin

Copies of this mod

1 near-identical copy found in the catalogue:

copy-number/germline-cnv-interpretation/SKILL.md · 191 lines

How it starts

The opening of the file, as written. The whole thing — 191 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Version Compatibility

Reference examples tested with: ClassifyCNV 1.1+, AnnotSV 3.4+, Python 3.10+ with pandas 2.2+; bedtools 2.31+.

Before using code patterns, verify installed versions match. If versions differ:

  • CLI: python ClassifyCNV.py --help, AnnotSV --version
  • Update the bundled ClinGen/dosage databases — ClassifyCNV ships an update_clingen.sh; dosage curation changes, and a stale database silently mis-scores.

This skill is for constitutional/germline CNVs only. Somatic tumor CNVs use a different framework (AMP/ASCO/CAP and OncoKB tiers) — do not apply ACMG/ClinGen constitutional scoring to a tumor.

Germline CNV Interpretation

"Is this constitutional CNV pathogenic" -> Apply the 2019 ACMG/ClinGen technical standards: a semiquantitative, points-based rubric that sums evidence into one of five clinical categories. There are two separate rubrics — one for copy-number loss, one for copy-number gain — because the evidence for deletion and duplication pathogenicity is different. The total score maps to a five-tier classification.

  • CLI: ClassifyCNV (automates the observed-evidence sections), AnnotSV (ACMG-aligned rank)
  • Manual: case-specific evidence (de novo status, segregation, prior literature) is scored by the interpreter, not the tool

The Points Framework

Total score Classification
>= 0.99 Pathogenic
0.90 to 0.98 Likely pathogenic
-0.89 to 0.89 Variant of uncertain significance (VUS)
-0.90 to -0.98 Likely benign
<= -0.99 Benign

Evidence is grouped into sections (the loss and gain rubrics each have five). For copy-number loss: Section 1 — does the CNV contain protein-coding or functionally important elements; Section 2 — overlap with established haploinsufficient genes/regions (strong positive) or established benign regions (strong negative); Section 3 — number of protein-coding genes; Section 4 — detailed case/literature evidence (case-control, prior probands, phenotype specificity); Section 5 — inheritance (de novo with confirmed parentage is strong positive; inherited from an unaffected parent is negative). The gain rubric is structured the same way but keyed to triplosensitivity and the distinct evidence base for duplications.

Read the full file on GitHub · 191 lines

Files

What ships with it

2 files beside SKILL.md in the same directory: the scripts, references and assets a skill reads on demand. Not counted in the per-session cost; read them before you install if any of them is executable.

Changes

What this file has done since we first saw it

Hashed on every crawl. A supply-chain change to an agent config is a question of when, not whether, so the history is kept rather than the latest state alone.

  1. 7d ago First seen · 191 lines · 154 tokens per session scan A 6c01c7d0182a

Subscribe to this mod's changes

bio-copy-number-germline-cnv-interpretation is a skill published in the GitHub repository GPTomics/bioSkills (1,199 stars, last pushed 26d ago), licensed MIT. It adds 154 tokens to every session and 2,807 once invoked, about $0.0008 per session on Opus 5. A static security scan graded it A with 0 findings. No closer match exists in the catalogue, so it is treated as the original; first seen 2026-09-03.

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