bio-outlier-splicing-detection

bio-outlier-splicing-detection is a skill for Claude Code, Codex from PKU-YuanGroup/OpenAI4S. It costs 205 tokens per session (5,423 once invoked), scanned A, a copy of bio-outlier-splicing-detection, MIT.

A guide to finding unusual RNA splicing or gene-expression patterns in one rare-disease patient compared with a panel of unaffected samples. RNA splicing is how cells join parts of RNA to make working messages.

In plain words
What is it for?
Analyze patient RNA-seq data with FRASER, OUTRIDER, LeafcutterMD, or DROP, and investigate possible splicing or expression abnormalities.
Why use it?
It addresses cases where there is one patient rather than two large groups to compare. It explains how several tools identify abnormal junction usage or gene expression for clinical genetic diagnosis.

Skill for Claude CodeCodex

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

Good fit Analyze patient RNA-seq data with FRASER, OUTRIDER, LeafcutterMD, or DROP, and investigate possible splicing or expression abnormalities.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/pku-yuangroup/openai4s/bio-alternative-splicing-outlier-splicing-detection
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-alternative-splicing-outlier-splicing-detection
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-outlier-splicing-detection

README.md
[![agentmods](https://agentmods.dev/badge/skills/pku-yuangroup/openai4s/bio-alternative-splicing-outlier-splicing-detection/github.svg)](https://agentmods.dev/skills/pku-yuangroup/openai4s/bio-alternative-splicing-outlier-splicing-detection)
Your own site
<a href="https://agentmods.dev/skills/pku-yuangroup/openai4s/bio-alternative-splicing-outlier-splicing-detection"><img src="https://agentmods.dev/badge/skills/pku-yuangroup/openai4s/bio-alternative-splicing-outlier-splicing-detection/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-outlier-splicing-detection

Your own site · 80×15
<a href="https://agentmods.dev/skills/pku-yuangroup/openai4s/bio-alternative-splicing-outlier-splicing-detection"><img src="https://agentmods.dev/badge/skills/pku-yuangroup/openai4s/bio-alternative-splicing-outlier-splicing-detection.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 205 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 5,423 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 94% 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 $0.00205 $0.05423
Opus 5 $0.00102 $0.02712
Sonnet 5 $0.00041 $0.01085
Haiku 4.5 $0.00020 $0.00542

Measured 13d ago against content hash 7f80a649ff9f, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-12, from the pricing page.

Security

Grade A, and why

bio-outlier-splicing-detection 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 13d 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

This is a copy

94% identical to bio-outlier-splicing-detection — 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-alternative-splicing-outlier-splicing-detection/SKILL.md · 395 lines

How it starts

The opening of the file, as written. The whole thing — 395 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Version Compatibility

Reference examples tested with: FRASER 2.0 (>=1.99.0), OUTRIDER 1.20+, LeafcutterMD via leafcutter 0.2.9+, DROP 1.4+, R 4.4+, BiocManager 1.30+

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

  • R: packageVersion('<pkg>') then ?function_name to verify parameters
  • CLI: <tool> --version then <tool> --help to confirm flags

If code throws ImportError, AttributeError, or TypeError, introspect the installed package and adapt the example to match the actual API rather than retrying.

Outlier Splicing Detection

For clinical RNA-seq diagnostics in rare disease, the question is not "what differs between groups?" but "what is aberrant in this single patient relative to a panel of unaffected samples?". The statistical framework is single-sample-vs-cohort outlier detection, fundamentally different from two-group differential splicing. Tools in this space are designed for clinical Mendelian diagnostic settings.

Tool Taxonomy

Tool Statistic Test target Fails when
FRASER 2.0 Beta-binomial autoencoder on Intron Jaccard Index Splicing outliers (per-sample, per-junction) Cohort <20 samples; tissue mismatch
OUTRIDER Autoencoder-denoised expression Z-score Gene-level expression outliers (LoF, monoallelic) Cohort <20 samples
LeafcutterMD Dirichlet-multinomial outlier mode Annotation-free intron usage Beta-binomial fits poorly OR few controls
DROP Snakemake pipeline All of above + monoallelic expression Pipeline complexity for small projects

Core reference: FRASER 2.0 for splicing outliers, OUTRIDER for expression outliers, DROP to combine. Standard tool in EU rare-disease programs (Solve-RD) and NIH UDN.

Decision Tree by Diagnostic Scenario

Scenario Recommended approach
Single rare-disease patient + panel of n>=50 controls FRASER 2.0 (Intron Jaccard Index)
Single patient + small panel (n=20-50) FRASER 2.0 with auxiliary GTEx controls; tune q carefully
Patient + cohort <20 Insufficient for outlier detection; consider differential or recruit more samples
Outlier expression suspected (loss of function, monoallelic) OUTRIDER on same cohort
Annotation-free outlier (cryptic exon, novel junction) LeafcutterMD
Integrated diagnostic pipeline (splicing + expression + MAE) DROP
TDP-43 ALS post-mortem brain (cryptic exons) FRASER 2.0; expect UNC13A, STMN2, ATG4B
SF3B1-mutant cancer sample FRASER 2.0 with cohort-matched RNA-seq; expect cryptic 3'ss
Familial dysautonomia (ELP1) FRASER 2.0 in fibroblast/iPSC; CNS tissue gives strongest signal
Stargardt deep-intronic ABCA4 FRASER 2.0 in retina-relevant tissue
Solid tumor splicing biomarker Differential splicing (n>=10 vs cohort) — see differential-splicing skill
RNA validation of SpliceAI hit FRASER 2.0 + cross-reference with predicted variant location

Read the full file on GitHub · 395 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. 13d ago First seen · 395 lines · 205 tokens per session scan A 7f80a649ff9f

Subscribe to this mod's changes

bio-outlier-splicing-detection is a skill published in the GitHub repository PKU-YuanGroup/OpenAI4S (407 stars, last pushed yesterday), licensed MIT. It adds 205 tokens to every session and 5,423 once invoked, about $0.0010 per session on Opus 5. A static security scan graded it A with 0 findings. It is 94% identical to bio-outlier-splicing-detection, differing in 12 lines, and is treated as a copy.

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