ClaudSkills / Science & Research / biology-medicine

Bio Outlier Splicing Detection

Q: What is a Claude Code skill and how does the Bio Outlier Splicing Detection skill fit in?

A Claude Code skill is a SKILL.md file that lives under ~/.claude/skills/<name>/ and tells the Claude Code CLI agent how to perform a specific task (instructions, prompts, allowed tools). Skills are auto-discovered at session start. Bio Outlier Splicing Detection is one of 67,000+ skills indexed in the open ClaudSkills catalog, classified under the Science & Research category. Learn more at https://claudskills.com/learn/what-is-skill-md/.

Category: Science & Research · Sub-category: biology-medicine · Last updated: 2026-06-02

type:debug

Detects aberrant splicing in single rare-disease patients vs a control panel using FRASER 2.0 (Bioconductor; Beta-binomial autoencoder on Intron Jaccard Index, default delta cutoff 0.1, q hyperparameter), OUTRIDER (gene-level outlier expression via autoencoder denoising), LeafcutterMD (Dirichlet-multinomial outlier mode of LeafCutter for annotation-free junctions), and DROP (Snakemake pipeline integrating FRASER2 + OUTRIDER + monoallelic expression for clinical diagnostics). The statistical model is fundamentally different from differential splicing — single-sample-vs-cohort outlier detection rather than two-group comparison. Standard tool in EU rare-disease (Solve-RD) and NIH UDN programs. Use when applying RNA-seq to undiagnosed Mendelian disease, validating predicted splice variants in clinical samples, or detecting cryptic splicing in disease tissue.

About this skill (catalog notes)

Bio Outlier Splicing Detection includes a dedicated installation section; pricing or quota commentary; 6 code blocks for direct copy-paste. At roughly 2,681 words the SKILL.md is on the longer end of the catalog distribution.

Source: bg-szy.github.io/TOP-SKILLS
Original author: bg-szy
Indexed lastmod: 2026-06-02
Catalog position: Science & Research · biology-medicine
Indexed related skills: 10

How Bio Outlier Splicing Detection fits the catalog

Bio Outlier Splicing Detection sits in the Science & Research category under the biology-medicine sub-topic in the ClaudSkills catalog. There are 10 related skills indexed alongside it; comparing a few before installing usually reveals which fits your workflow best.

These notes are auto-generated from features detected in the SKILL.md file and from this catalog's structure — they aren't part of the source repository.

What this skill does

Bio Outlier Splicing Detection is a community-contributed Claude Code skill in the biology-medicine sub-category. It ships as a SKILL.md file that Claude Code auto-discovers under ~/.claude/skills/bio-outlier-splicing-detection/ and loads when your prompt matches the skill's trigger.

When to invoke it: Use when applying RNA-seq to undiagnosed Mendelian disease, validating predicted splice variants in clinical samples, or detecting cryptic splicing in disease tissue.

Who uses this skill

The Bio Outlier Splicing Detection Claude Code skill is built for researchers, data scientists, academics, and analysts working with complex data and scientific literature. It's part of ClaudSkills (also referred to as Claude Skills or Claude Code Skills) — the open community-curated registry of 94,000+ SKILL.md files for Anthropic's Claude Code agent and the wider Claude ecosystem (Claude API, Claude Agent SDK).

How to install

Free

Manual install (2 steps)

mkdir -p ~/.claude/skills/bio-outlier-splicing-detection
curl -L https://claudskills.com/skills/bio-outlier-splicing-detection/SKILL.md \
  -o ~/.claude/skills/bio-outlier-splicing-detection/SKILL.md

Or just download SKILL.md directly and drop it into ~/.claude/skills/bio-outlier-splicing-detection/. Claude Code auto-discovers it on next session.

Skills live at ~/.claude/skills/bio-outlier-splicing-detection/SKILL.md on macOS/Linux, or %USERPROFILE%\.claude\skills\bio-outlier-splicing-detection\SKILL.md on Windows. See the full install guide for step-by-step instructions.

📱 Install from your phone or desktop Telegram

Open @claudskills_bot on Telegram, tap Open Desktop App, and the desktop app installs this skill for you. Or share the bot link with a colleague — they get the same one-tap install. Learn more →

Pro

One-click install via the desktop app

The ClaudSkills desktop app installs any skill directly into ~/.claude/skills/ with one click — no terminal required. Pro starts at $9/mo or $149 lifetime.

Pro

For the full experience including quality scoring and one-click install features for each skill — upgrade to Pro.

See pricing → Download desktop app

Frequently asked questions

How do I install the Bio Outlier Splicing Detection Claude Code skill?

Install via the ClaudSkills desktop app (one click) or copy SKILL.md from the source repository to ~/.claude/skills/bio-outlier-splicing-detection/SKILL.md and restart Claude Code. Both flows are detailed at claudskills.com/install/.

What does the Bio Outlier Splicing Detection skill do?

Is this skill free to install?

Yes. ClaudSkills is an open registry — every skill keeps its source repository's license, and manual install via copy is free. ClaudSkills Pro ($9/mo, $79/yr, or $149 one-time) adds one-click install via the desktop app and a multi-signal Quality Score.

When should I use the Bio Outlier Splicing Detection skill?

Use Bio Outlier Splicing Detection when your Claude Code task falls under the Science & Research category — specifically in the biology medicine area. Claude Code auto-discovers installed skills and invokes the right one based on the task description, so you can also ask Claude directly (e.g. "use Bio Outlier Splicing Detection" or describe the task and let Claude pick). Browse related skills at /category/science/.

What is a Claude Code skill and how does the Bio Outlier Splicing Detection skill fit in?

A Claude Code skill is a SKILL.md file that lives under ~/.claude/skills/<name>/ and tells the Claude Code CLI agent how to perform a specific task (instructions, prompts, allowed tools). Skills are auto-discovered at session start. Bio Outlier Splicing Detection is one of 67,000+ skills indexed in the open ClaudSkills catalog, classified under the Science & Research category. Learn more at /learn/what-is-a-claude-skill/.

Attribution & license

Source: https://github.com/bg-szy/TOP-SKILLS/blob/HEAD/skills/awesome-skills/bio-outlier-splicing-detection/SKILL.md
Author: bg-szy
Website: https://bg-szy.github.io/TOP-SKILLS/

Cite this skill

If you reference this skill in a blog post, paper, or documentation, you can cite it as:

APA

bg-szy. (2026). Bio Outlier Splicing Detection [Claude Code skill]. ClaudSkills. https://claudskills.com/skills/bio-outlier-splicing-detection/

BibTeX

@misc{bio-outlier-splicing-detection-2026,
  author    = {bg-szy},
  title     = {Bio Outlier Splicing Detection [Claude Code skill]},
  year      = {2026},
  publisher = {ClaudSkills},
  url       = {https://claudskills.com/skills/bio-outlier-splicing-detection/}
}

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