ClaudSkills / General / orchestration-frameworks

Bio Splice Variant Prediction

Q: What is a Claude Code skill and how does the Bio Splice Variant Prediction 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 Splice Variant Prediction is one of 67,000+ skills indexed in the open ClaudSkills catalog, classified under the General category. Learn more at https://claudskills.com/learn/what-is-skill-md/.

Category: General · Sub-category: orchestration-frameworks · Last updated: 2026-06-02

Predicts whether a DNA variant alters mRNA splicing using sequence-based deep-learning tools — SpliceAI (10kb context dilated CNN, clinical default), Pangolin (multi-tissue), MMSplice (modular per-region CNN with calibrated ΔPSI), SpliceTransformer/TrASPr (tissue-aware transformers), SpliceVault (empirical 300K-RNA lookup of likely mis-splicing outcomes), CADD-Splice (composite score). Applies the ClinGen SVI 2023 framework for ACMG/AMP variant interpretation (PVS1, PP3, BP4 evidence codes), HGVS splicing nomenclature (c.123+1G>A, c.123-3T>G, r.spl?), extended-window scoring for deep-intronic pseudoexons, tissue-specific predictions, branchpoint variant detection (BPHunter, LaBranchoR), and splice-switching ASO design. Use when interpreting splice impact of clinical variants, prioritizing VUS, identifying deep-intronic pathogenic variants, or designing ASOs.

About this skill (catalog notes)

Bio Splice Variant Prediction includes worked examples; 9 code blocks for direct copy-paste. At roughly 3,282 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: General · orchestration-frameworks
Indexed related skills: 10

How Bio Splice Variant Prediction fits the catalog

Bio Splice Variant Prediction sits in the General category under the orchestration-frameworks 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 Splice Variant Prediction is a community-contributed Claude Code skill in the orchestration-frameworks sub-category. It ships as a SKILL.md file that Claude Code auto-discovers under ~/.claude/skills/bio-splice-variant-prediction/ and loads when your prompt matches the skill's trigger.

When to invoke it: Use when interpreting splice impact of clinical variants, prioritizing VUS, identifying deep-intronic pathogenic variants, or designing ASOs.

Who uses this skill

The Bio Splice Variant Prediction Claude Code skill is built for Claude Code users and developers across all disciplines looking for general-purpose AI assistance. It's part of ClaudSkills (also referred to as Claude Skills or Claude Code Skills) — the open community-curated registry of 85,000+ 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-splice-variant-prediction
curl -L https://claudskills.com/skills/bio-splice-variant-prediction/SKILL.md \
  -o ~/.claude/skills/bio-splice-variant-prediction/SKILL.md

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

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

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 Splice Variant Prediction Claude Code skill?

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

What does the Bio Splice Variant Prediction 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 Splice Variant Prediction skill?

Use Bio Splice Variant Prediction when your Claude Code task falls under the General category — specifically in the orchestration frameworks 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 Splice Variant Prediction" or describe the task and let Claude pick). Browse related skills at /category/general/.

What is a Claude Code skill and how does the Bio Splice Variant Prediction 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 Splice Variant Prediction is one of 67,000+ skills indexed in the open ClaudSkills catalog, classified under the General 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-splice-variant-prediction/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 Splice Variant Prediction [Claude Code skill]. ClaudSkills. https://claudskills.com/skills/bio-splice-variant-prediction/

BibTeX

@misc{bio-splice-variant-prediction-2026,
  author    = {bg-szy},
  title     = {Bio Splice Variant Prediction [Claude Code skill]},
  year      = {2026},
  publisher = {ClaudSkills},
  url       = {https://claudskills.com/skills/bio-splice-variant-prediction/}
}

Embed this skill

Promote, attribute, or link this skill from your own README, blog post, or documentation. All three snippets are free to use — no sign-up, no API key. More distribution surfaces →

Badge

[![ClaudSkills](https://claudskills.com/badge/bio-splice-variant-prediction.svg)](https://claudskills.com/skills/bio-splice-variant-prediction/?utm_source=badge&utm_medium=readme&utm_campaign=skill_badge)

More General skills

Browse all General skills in the ClaudSkills registry, or explore these other picks from the same category:

Browse all General skills → Top 100 skills

Part of ClaudSkills — the open registry for Claude Skills & Claude Code Skills. · What's New · Install guide · About · llms.txt

Part of Acreator Store — Adam Lankamer's AI tools: PerfectStudio · Ucaption · UTagger · AutoXPoster · TestYourSkills · AutomationFlows · Au Naturel