bio-copy-number-gatk-cnv

bio-copy-number-gatk-cnv is a skill for Claude Code, Codex from GPTomics/bioSkills. It costs 175 tokens per session (4,002 once invoked), scanned A, original, MIT.

A guide and workflow for finding copy number variants—large gains or losses of DNA—using the GATK genetics toolkit. It covers separate pipelines for tumor samples and inherited, or germline, variation.

In plain words
What is it for?
Use it to process sequencing read counts, normalize them, model copy-number segments, and produce tumor copy-ratio results or germline copy-number genotypes.
Why use it?
It helps prevent choosing the wrong GATK pipeline, which can lead to incorrect processing or missing results. It also documents version and environment requirements that commonly cause failures.

Skill for Claude CodeCodex

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

Good fit Use it to process sequencing read counts, normalize them, model copy-number segments, and produce tumor copy-ratio results or germline copy-number genotypes.

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Install with agentmods
npx agentmods add skills/gptomics/bioskills/gatk-cnv
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 gatk-cnv
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-gatk-cnv

README.md
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Your own site
<a href="https://agentmods.dev/skills/gptomics/bioskills/gatk-cnv"><img src="https://agentmods.dev/badge/skills/gptomics/bioskills/gatk-cnv/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.

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Your own site · 80×15
<a href="https://agentmods.dev/skills/gptomics/bioskills/gatk-cnv"><img src="https://agentmods.dev/badge/skills/gptomics/bioskills/gatk-cnv.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 175 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 4,002 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 $0.00175 $0.04002
Opus 5 $0.00088 $0.02001
Sonnet 5 $0.00035 $0.00800
Haiku 4.5 $0.00017 $0.00400

Measured 7d ago against content hash de97437ffd0b, 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-gatk-cnv 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/run_gatk_cnv.sh), 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/gatk-cnv/SKILL.md · 227 lines

How it starts

The opening of the file, as written. The whole thing — 227 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Version Compatibility

Reference examples tested with: GATK 4.5+ (gatk4), Python 3.10+ (gcnv conda env), R 4.3+.

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

  • CLI: gatk --version then gatk <ToolName> --help to confirm arguments
  • gCNV requires a working gatkcondaenv (theano/tensorflow stack) — gatk will report if the Python environment is missing

GATK 4.5+ gCNV inference defaults are tuned for whole-exome data; whole-genome runs generally need parameter changes. If a tool reports an unrecognized argument, check the help for that exact GATK version rather than retrying.

GATK CNV Workflows

"Call CNVs the GATK way" -> GATK has two separate CNV workflows that share almost no tools. Picking the wrong one is the most common mistake.

  • Somatic CNV: CollectReadCounts -> DenoiseReadCounts -> ModelSegments -> CallCopyRatioSegments. Tumor copy-ratio segments, optionally allele-aware.
  • Germline gCNV: DetermineGermlineContigPloidy -> GermlineCNVCaller -> PostprocessGermlineCNVCalls. Per-sample germline CN genotypes (VCF).

Critical: What GATK Somatic CNV Does NOT Provide

ModelSegments + CallCopyRatioSegments produce copy-ratio segments and a minor-allele fraction per segment, and the "call" is a simple t-test emitting + / - / 0. This is not integer allele-specific copy number, not tumor purity, and not ploidy. Practitioners routinely assume parity with ASCAT/FACETS and there is none. For integer allele-specific CN, purity, ploidy, LOH state, or whole-genome-doubling status, use allele-specific-copy-number (ASCAT, Sequenza, FACETS, or PureCN — PureCN can even reuse the GATK ModelSegments segmentation as input).

Somatic vs Germline — Choosing the Workflow

Question Somatic CNV Germline gCNV
Input One tumor (+ optional matched normal) A cohort of constitutional samples
Output Copy-ratio segments, +/-/0 call, minor-allele fraction Integer germline CN genotype VCF per sample
Normalization Tangent (projection onto PoN subspace) PCA batching + Bayesian read-depth model
Cohort needed PoN of normals for denoising >= ~100 technically matched samples (cohort mode)
Use for Tumor SCNAs, focal amplifications/deletions Rare/de novo germline CNVs, NDD/Mendelian cohorts

Read the full file on GitHub · 227 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 · 227 lines · 175 tokens per session scan A de97437ffd0b

Subscribe to this mod's changes

bio-copy-number-gatk-cnv is a skill published in the GitHub repository GPTomics/bioSkills (1,199 stars, last pushed 26d ago), licensed MIT. It adds 175 tokens to every session and 4,002 once invoked, about $0.0009 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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