bio-copy-number-gatk-cnv SKILL.md skillA

bio-copy-number-gatk-cnv from pku-yuangroup/openai4s is an agent skill: a SKILL.md folder an AI agent loads when a task calls for it.

Install it, pinned
mdr add pku-yuangroup/openai4s/bio-copy-number-gatk-cnv@git:20260821.2d1b678

Pins git:20260821.2d1b678 in mdr.lock. Pin the fingerprint instead.

Audit grade
A, 17 of 17 checks passed
Kind
SKILL.md skill
Repository
pku-yuangroup/openai4s
Path
skills/bioskills/bio-copy-number-gatk-cnv/SKILL.md
Versions recorded
1
Latest version
git:20260821.2d1b678, committed Aug 21, 2026
Size
15,685 bytes
Repository stars
662
License
MIT

Call copy number variants with the GATK best-practices workflows — the somatic CNV pipeline (CollectReadCounts, DenoiseReadCounts with tangent normalization, ModelSegments, CallCopyRatioSegments) and the germline GATK-gCNV pipeline (DetermineGermlineContigPloidy, GermlineCNVCaller cohort/case mode, PostprocessGermlineCNVCalls). Covers panel-of-normals construction, AnnotateIntervals/FilterIntervals, allelic-count integration, and QS-based filtering. Use when integrating CNV calling into a GATK…

Collected from public GitHub. Every version is saved exactly as it was and never changes. Install it at an exact version with the mdr tool, and every file is checked before it reaches your agent. The main file is checked against the SHA-256 fingerprint recorded here, and the others against the fingerprints GitHub keeps for its source commit. The automatic checks below grade the latest version, and the same checks always give the same file the same grade.

What the file says

## 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
…

Read the whole file at its exact version.

How to install

The exact contents, by fingerprint
mdr add pku-yuangroup/openai4s/bio-copy-number-gatk-cnv@sha256:e8aa132fae56c692

The line at the top of this page pins the label git:20260821.2d1b678, which is what most people want. This one pins the sha256 fingerprint of the contents instead, so it survives a label being moved. Either way the exact version is written to mdr.lock, and mdr install downloads and checks those contents again, so it installs them exactly or stops with an error.

Badge

mdr badge

[![mdr](https://markdownregistry.com/badge/art_2c6kr3t3nvoe77cp.svg)](https://markdownregistry.com/a/art_2c6kr3t3nvoe77cp)

2 badge image fetches in 30 days. What the badge shows.

Versions

The registry has recorded 1 version of this file, committed on Aug 21, 2026.

versioncommittedcommitsizeaudit
git:20260821.2d1b678 latest2026-08-21 2d1b678 15,685 BA view

Audit of the latest version

A  17 of 17 checks passed. Fixed automatic checks with no AI involved, so the same checks give the same answer every run.
  • pass: Frontmatter block present
  • pass: Frontmatter declares a name
  • pass: Frontmatter declares a description
  • pass: Size between 200 bytes and 200 KB (15685 bytes)
  • pass: No zero-width or bidi control characters
  • pass: No instruction hidden inside an HTML comment
  • pass: No link to an exfiltration or paste host
  • pass: No credential-shaped string
  • pass: No instruction to send local credentials anywhere
  • pass: No text hidden with inline styles
  • pass: No prompt-injection phrasing
  • pass: No curl or wget piped into a shell
  • pass: No recursive delete of root, home or parent
  • pass: No instruction to read or print local credentials
  • pass: No base64 blob over 200 characters
  • pass: No link to a raw IP address
  • pass: No script tag

Source

GitHub

pku-yuangroup/openai4s · 662 stars · license MIT · pushed 2026-11-03 · branch main

API

GET https://markdownregistry.com/api/v1/artifacts/art_2c6kr3t3nvoe77cp
GET https://markdownregistry.com/api/v1/resolve?ref=pku-yuangroup/openai4s/bio-copy-number-gatk-cnv
GET https://markdownregistry.com/api/v1/blob/e8aa132fae56c6920fba379cea9beb11e10ee32de0e5c9e7ea1c9fa04e608071

Your AI assistant does the legwork. You hear about the deals worth your word. Hand yours the standing instructions at modelranch.com and it joins the network that reads files like this one.

Guides: the SKILL.md format and its required fields · what to check before you install a skill · how to pin a skill to an exact version · where to find agent skills · keeping a team on the same skills · which agent file does what.

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