bio-splice-variant-prediction

bio-splice-variant-prediction is a skill for Claude Code, Codex from GPTomics/bioSkills. It costs 228 tokens per session (6,806 once invoked), scanned A, original, MIT.

Sequence-based prediction of whether a DNA variant changes mRNA splicing, the process that joins gene segments into a mature RNA message. It focuses specifically on splice-site and splice-pattern changes, not on whether the variant causes disease overall.

In plain words
What is it for?
Use it to score variants for possible splice disruption, estimate changes in splice-site use, compare predictions across tissues, and prioritize variants for follow-up testing.
Why use it?
It helps prioritize variants that may alter how RNA is assembled when direct experimental evidence is unavailable. Different predictors provide sequence-based estimates, sometimes with tissue-specific context.

Skill for Claude CodeCodex

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

Good fit Use it to score variants for possible splice disruption, estimate changes in splice-site use, compare predictions across tissues, and prioritize variants for follow-up testing.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/gptomics/bioskills/splice-variant-prediction
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 splice-variant-prediction
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-splice-variant-prediction

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

Your own site · 80×15
<a href="https://agentmods.dev/skills/gptomics/bioskills/splice-variant-prediction"><img src="https://agentmods.dev/badge/skills/gptomics/bioskills/splice-variant-prediction.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 228 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 6,806 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 $0.00228 $0.06806
Opus 5 $0.00114 $0.03403
Sonnet 5 $0.00046 $0.01361
Haiku 4.5 $0.00023 $0.00681

Measured 9d ago against content hash 71d8f8765d00, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-09, from the pricing page.

Security

Grade A, and why

bio-splice-variant-prediction 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 9d ago.

The scan reads SKILL.md. This mod also ships 1 executable file (examples/spliceai_clingen_classify.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:

alternative-splicing/splice-variant-prediction/SKILL.md · 449 lines

How it starts

The opening of the file, as written. The whole thing — 449 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Version Compatibility

Reference examples tested with: SpliceAI 1.3+, Pangolin 1.0+, MMSplice 2.4+, pyensembl 2.3+, pysam 0.22+, pandas 2.2+, gffutils 0.13+, tensorflow 2.15+

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

  • Python: pip show <package> then help(module.function) to check signatures
  • 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.

Splice Variant Prediction

Predict whether a DNA variant alters mRNA splicing. Distinct from "variant pathogenicity" generally: a variant can be a strong splice disruptor without being pathogenic for the gene's standard mechanism, or pathogenic for reasons orthogonal to splicing. Splice prediction asks specifically: does this variant change splice-site usage?

Predictor Taxonomy

Family Architecture Output Fails when
Context-aware CNN 10 kb dilated ResNet Per-position donor/acceptor probability Long-range (>5 kb) regulatory effects; tissue-specific events
Tissue-aware CNN/transformer Same arch + multi-tissue training Per-tissue ΔPSI Tissue not in training set; novel cell types
Modular per-region CNN Separate sub-models for 5'ss/3'ss/exon/intron Calibrated quantitative ΔPSI Atypical events; complex multi-junction effects
Foundation transformer Pretrained on broad genomic context Splice probability or ΔPSI New tools; less battle-tested
Empirical lookup Public RNA-seq event database Top-N most likely mis-splicing outcomes Variant types not represented in training cohorts
Composite score Blend of multiple predictors Single scaled score When component predictors disagree internally

Tool Selection Matrix

Tool Best for Output When to use Fails when
SpliceAI Clinical screening; canonical splice site disruption Delta score 0-1 Default for ACMG variant classification Tissue-specific events; deep-intronic with default 50nt window
Pangolin Tissue-aware predictions Per-tissue ΔPSI When disease tissue is known (brain, heart, liver, testis) Tissue not in 4-tissue training set
MMSplice Quantitative ΔPSI Δlogit_psi Research where calibrated effect-size matters Atypical events outside cassette-exon model
SpliceTransformer 2024+ benchmark improvements Tissue-specific ΔPSI When transformer foundation models outperform CNN on benchmark variant sets New (2024); limited clinical adoption
TrASPr Multi-transformer, 2024-2025 Tissue-specific PSI/ΔPSI Strong on tissue-specific test sets New; verify before clinical use
SpliceVault Empirical mis-splicing outcome Top-N events at the affected splice site Predicting consequence (skip vs cryptic) of canonical-disrupting variants Variants not represented in 300K-RNA training
CADD-Splice Single composite score Scaled C-score Clinical pipelines wanting one number When knowing which sub-component drove the score is needed

Read the full file on GitHub · 449 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. 9d ago First seen · 449 lines · 228 tokens per session scan A 71d8f8765d00

Subscribe to this mod's changes

bio-splice-variant-prediction is a skill published in the GitHub repository GPTomics/bioSkills (1,199 stars, last pushed 24d ago), licensed MIT. It adds 228 tokens to every session and 6,806 once invoked, about $0.0011 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 2026-08-30.

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