bio-copy-number-gatk-cnv

bio-copy-number-gatk-cnv is a skill for Claude Code, Codex from PKU-YuanGroup/OpenAI4S. It costs 175 tokens per session (4,076 once invoked), scanned A, a copy of bio-copy-number-gatk-cnv, MIT.

A GATK-based workflow for detecting copy-number variants, which are gains or losses of DNA segments. It supports separate workflows for tumour samples and inherited variants found across the body.

In plain words
What is it for?
Use it to call tumour copy-number segments from sequencing read counts or produce inherited copy-number genotypes with GATK's germline workflow.
Why use it?
It helps avoid confusing somatic tumour analysis with germline analysis, which use different processing steps and produce different kinds of results.

Skill for Claude CodeCodex

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

Good fit Use it to call tumour copy-number segments from sequencing read counts or produce inherited copy-number genotypes with GATK's germline workflow.

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Install with agentmods
npx agentmods add skills/pku-yuangroup/openai4s/bio-copy-number-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 PKU-YuanGroup/OpenAI4S --skill bio-copy-number-gatk-cnv
Clone the repo
git clone --depth 1 https://github.com/PKU-YuanGroup/OpenAI4S

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
[![agentmods](https://agentmods.dev/badge/skills/pku-yuangroup/openai4s/bio-copy-number-gatk-cnv/github.svg)](https://agentmods.dev/skills/pku-yuangroup/openai4s/bio-copy-number-gatk-cnv)
Your own site
<a href="https://agentmods.dev/skills/pku-yuangroup/openai4s/bio-copy-number-gatk-cnv"><img src="https://agentmods.dev/badge/skills/pku-yuangroup/openai4s/bio-copy-number-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.

agentmods 80×15 button for bio-copy-number-gatk-cnv

Your own site · 80×15
<a href="https://agentmods.dev/skills/pku-yuangroup/openai4s/bio-copy-number-gatk-cnv"><img src="https://agentmods.dev/badge/skills/pku-yuangroup/openai4s/bio-copy-number-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 4,076 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 95% copy Near-identical to another mod 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 $0.04076
Opus 5 $0.00088 $0.02038
Sonnet 5 $0.00035 $0.00815
Haiku 4.5 $0.00017 $0.00408

Measured 9d ago against content hash e8aa132fae56, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-12, 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 9d ago.

The scan reads SKILL.md. This mod also ships 1 executable file (scripts/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

This is a copy

95% identical to bio-copy-number-gatk-cnv — 12 lines differ, which has more behind it and is treated as the original. This page carries a canonical link to it rather than competing with it.

skills/bioskills/bio-copy-number-gatk-cnv/SKILL.md · 235 lines

How it starts

The opening of the file, as written. The whole thing — 235 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 · 235 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. 9d ago First seen · 235 lines · 175 tokens per session scan A e8aa132fae56

Subscribe to this mod's changes

bio-copy-number-gatk-cnv is a skill published in the GitHub repository PKU-YuanGroup/OpenAI4S (407 stars, last pushed yesterday), licensed MIT. It adds 175 tokens to every session and 4,076 once invoked, about $0.0009 per session on Opus 5. A static security scan graded it A with 0 findings. It is 95% identical to bio-copy-number-gatk-cnv, differing in 12 lines, and is treated as a copy.

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