bio-copy-number-cnv-annotation

bio-copy-number-cnv-annotation is a skill for Claude Code, Codex from GPTomics/bioSkills. It costs 132 tokens per session (3,361 once invoked), scanned A, original, MIT.

A guide to adding biological and clinical information to copy-number variant regions. It links altered DNA segments to overlapping genes, dosage sensitivity, cancer drivers, and population or clinical databases.

In plain words
What is it for?
Use it to overlap CNV segments with gene annotations, rank potentially important genes, and attach dosage or clinical evidence to copy-number calls.
Why use it?
It turns a list of genomic intervals into findings that are easier to interpret. This matters because not every gene inside a changed region has the same biological or clinical importance.

Skill for Claude CodeCodex

Written for no agent in particular: nothing here depends on one. Also seen: positional $N argument.

Good fit Use it to overlap CNV segments with gene annotations, rank potentially important genes, and attach dosage or clinical evidence to copy-number calls.

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

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

Your own site · 80×15
<a href="https://agentmods.dev/skills/gptomics/bioskills/cnv-annotation"><img src="https://agentmods.dev/badge/skills/gptomics/bioskills/cnv-annotation.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 132 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 3,361 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 $0.00132 $0.03361
Opus 5 $0.00066 $0.01681
Sonnet 5 $0.00026 $0.00672
Haiku 4.5 $0.00013 $0.00336

Measured 8d ago against content hash fef68270f317, 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-cnv-annotation 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 8d ago.

The scan reads SKILL.md. This mod also ships 1 executable file (examples/annotate_cnvs.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/cnv-annotation/SKILL.md · 224 lines

How it starts

The opening of the file, as written. The whole thing — 224 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Version Compatibility

Reference examples tested with: bedtools 2.31+, AnnotSV 3.4+, Python 3.10+ with pybedtools 0.9+, pandas 2.2+, pysam 0.22+; R 4.3+ with clusterProfiler 4.10+.

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

  • CLI: bedtools --version, AnnotSV --version
  • Python: pip show pybedtools pandas pysam
  • R: packageVersion('clusterProfiler')

If code throws an error, introspect the installed package and adapt the example. AnnotSV output column names change between major versions — verify against the installed version.

CNV Annotation

"Annotate my CNV calls with the genes they affect" -> Overlap CNV segments with gene models, dosage-sensitivity maps, and clinical databases. The hard part is not the intersection — it is deciding which genes matter. A focal amplification overlapping 30 genes usually has one driver (the peak gene); a deletion's consequence depends on whether each gene is dosage-sensitive and whether the whole gene or only part is removed.

  • CLI: bedtools intersect -a cnvs.bed -b genes.bed -wa -wb; AnnotSV for full annotation
  • Python: pybedtools for interval logic; pysam for VCF database queries

Annotation Strategy — Pick the Database for the Question

Question Resource What it answers
Which genes does this CNV span? RefSeq/GENCODE gene BED Raw overlap (not yet consequence)
Is loss of this gene damaging? ClinGen haploinsufficiency (HI) score Dosage sensitivity to deletion
Is gain of this gene damaging? ClinGen triplosensitivity (TS) score Dosage sensitivity to duplication
Is this CNV common in the population? gnomAD-SV, DGV, 1000G CNV Benign-frequency filtering
Is this a known recurrent disorder locus? ClinGen dosage regions, DECIPHER Genomic-disorder context
Is this a cancer driver? COSMIC Cancer Gene Census, OncoKB Oncogene vs tumor-suppressor role
Is there pathogenic small-variant content? ClinVar Coincident SNV/indel pathogenicity
One-shot comprehensive annotation + ranking AnnotSV Aggregates most of the above

Read the full file on GitHub · 224 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. 8d ago First seen · 224 lines · 132 tokens per session scan A fef68270f317

Subscribe to this mod's changes

bio-copy-number-cnv-annotation is a skill published in the GitHub repository GPTomics/bioSkills (1,201 stars, last pushed 27d ago), licensed MIT. It adds 132 tokens to every session and 3,361 once invoked, about $0.0007 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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