bio-copy-number-allele-specific-copy-number

bio-copy-number-allele-specific-copy-number is a skill for Claude Code, Codex from GPTomics/bioSkills. It costs 176 tokens per session (4,325 once invoked), scanned A, original, MIT.

A guide to estimating how many copies of each allele are present in a tumor, along with tumor purity and ploidy. It combines read depth with B-allele frequency, the proportion of reads carrying one version of a genetic site.

In plain words
What is it for?
Use it to model allele-specific copy number from tumor sequencing and estimate major and minor copy numbers for genomic segments.
Why use it?
Read depth alone gives only relative copy number. Adding allele balance helps investigate loss of heterozygosity, absolute copy number, purity, and ploidy.

Skill for Claude CodeCodex

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

Good fit Use it to model allele-specific copy number from tumor sequencing and estimate major and minor copy numbers for genomic segments.

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Install with agentmods
npx agentmods add skills/gptomics/bioskills/allele-specific-copy-number
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 allele-specific-copy-number
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-allele-specific-copy-number

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

Your own site · 80×15
<a href="https://agentmods.dev/skills/gptomics/bioskills/allele-specific-copy-number"><img src="https://agentmods.dev/badge/skills/gptomics/bioskills/allele-specific-copy-number.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 176 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 4,325 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 $0.00176 $0.04325
Opus 5 $0.00088 $0.02162
Sonnet 5 $0.00035 $0.00865
Haiku 4.5 $0.00018 $0.00432

Measured 8d ago against content hash ee43e209b5e8, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-11, from the pricing page.

Security

Grade A, and why

bio-copy-number-allele-specific-copy-number 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.

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/allele-specific-copy-number/SKILL.md · 241 lines

How it starts

The opening of the file, as written. The whole thing — 241 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Version Compatibility

Reference examples tested with: ASCAT 3.1+, Sequenza 3.0+ (sequenza-utils 3.0+), FACETS 0.6+ (snp-pileup), PureCN 2.6+, R 4.3+, Python 3.10+.

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

  • R: packageVersion('ASCAT') / 'sequenza' / 'facets' / 'PureCN', then ?function
  • CLI: sequenza-utils --version, snp-pileup --help

Sequenza 3.0 depends on the copynumber Bioconductor package, REMOVED from Bioconductor 3.18+ (2023). Install a maintained fork (ShixiangWang/copynumber or igordot/copynumber) before Sequenza will load. ASCAT's GC-correction function was renamed across 2.x->3.x (ascat.GCcorrect -> ascat.correctLogR) — verify against the installed version.

Allele-Specific Copy Number

"How many copies of each allele, in what fraction of cells, at what tumor purity" -> Jointly model read depth and B-allele frequency to fit tumor purity, ploidy, and integer major/minor copy number per segment. Depth alone gives only relative copy ratio; depth + BAF gives absolute allele-specific copy number. This skill is required whenever the question involves LOH, absolute copy number, purity, ploidy, or whole-genome doubling — CNVkit and GATK somatic CNV cannot answer those.

  • R: ASCAT (WGS, SNP array), sequenza (WES/WGS), facets (panel/WES/WGS), PureCN (tumor-only panel/WES)
  • CLI: purple (Hartwig WGS pipeline, with AMBER + COBALT)

The Identifiability Problem — Why This Is Hard

Purity and ploidy are not identifiable from depth alone. The same log-ratio profile is explained equally well by many (purity, ploidy) pairs: a homozygous deletion at 30% purity looks identical to a heterozygous deletion at 60% purity; an entire profile can be reinterpreted at 2x ploidy with halved purity. Every allele-specific caller breaks this degeneracy by adding BAF — allelic imbalance constrains which solution is real. The consequence: the likelihood surface is multimodal, the fit can lock onto an integer-multiple of the true ploidy, and a single point estimate must never be trusted without inspecting the fit diagnostic (ASCAT sunrise plot, Sequenza cellularity/ploidy contour, FACETS dipLogR). A documented example: the same tumor scored ploidy 4.27 by FACETS (WGS) and 2.42 by ASCAT (SNP array).

Read the full file on GitHub · 241 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 · 241 lines · 176 tokens per session scan A ee43e209b5e8

Subscribe to this mod's changes

bio-copy-number-allele-specific-copy-number is a skill published in the GitHub repository GPTomics/bioSkills (1,201 stars, last pushed 27d ago), licensed MIT. It adds 176 tokens to every session and 4,325 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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