README.md

metadata

title: Mutation Explainability Intelligence System
emoji: 🧬
colorFrom: blue
colorTo: indigo
sdk: gradio
sdk_version: 4.44.1
python_version: '3.11'
app_file: app.py
pinned: false
license: mit
tags:
  - bioinformatics
  - genomics
  - explainability
  - clinical-genomics
  - pytorch
  - xai
short_description: Explanation-first tri-model genomic variant analysis

🧬 Mutation Explainability Intelligence System

Explanation before prediction. Always.

Models used

Model	Repo
Splice disruption (MutationPredictorCNN_v2)	nileshhanotia/mutation-predictor-splice
Protein context v4 (MutationPredictorCNN_v2)	nileshhanotia/mutation-predictor-v4
Classic pathogenicity (MutationPredictorCNN)	nileshhanotia/mutation-pathogenicity-predictor

Internal signals extracted

• conv3 activation norm profile — per-nucleotide CNN signal (99 positions)
• Gradient attribution map — input-gradient backward pass
• Mutation-centered peak — activation value at the specific mutation position
• Splice aura distance — distance to nearest GT donor / AG acceptor
• Counterfactual delta — probability range across all alternative substitutions
• Feature ablation response — causal effect of zeroing splice / region / mutation features
• Risk tier classification — PATHOGENIC → BENIGN

⚠️ Disclaimer

For research use only. Not a clinical diagnostic tool.