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  title: Mutation Explainability Intelligence System
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  emoji: 🧬
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  colorFrom: blue
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- colorTo: red
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  sdk: gradio
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- sdk_version: 4.44.1
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  app_file: app.py
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  pinned: false
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  license: mit
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  tags:
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- - genomics
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  - bioinformatics
 
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  - explainability
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- - pathogenicity
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- - splice
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- - XAI
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  ---
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- # Mutation Explainability Intelligence System
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-
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- **Explainability-first** three-model ensemble for SNV pathogenicity prediction.
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-
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- The system answers five core questions **before** presenting any prediction score:
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-
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- 1. Why was this variant predicted pathogenic / benign?
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- 2. Which internal model signals drove that decision?
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- 3. Is the signal localised at the mutation site?
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- 4. Did removing the mutation change the prediction?
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- 5. Do multiple models agree mechanistically?
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-
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- ## Models
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-
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- | Model | Repo | Architecture |
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- |---|---|---|
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- | Splice | `nileshhanotia/mutation-predictor-splice` | MutationPredictorCNN_v2 |
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- | V4 | `nileshhanotia/mutation-predictor-v4` | MutationPredictorCNN_v4 |
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- | Classic | `nileshhanotia/mutation-pathogenicity-predictor` | MutationPredictorClassic |
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-
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- ## Input
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-
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- - Chromosome, Position (hg38), Ref base, Alt base, Exon/Intron flag
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- - Sequence fetched automatically from **Ensembl REST API** (99-bp window)
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-
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- ## Explainability Signals
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-
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- - **conv3 activation norm profiles** — per-nucleotide activation intensity
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- - **Mutation-centred activation peak** — peak at mutation site vs mean
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- - **Gradient attribution maps** — input-gradient backward pass
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- - **Splice aura distance** — proximity to GT/AG splice dinucleotides
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- - **Counterfactual delta** — all alternative bases tested
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- - **Feature ablation** — splice / region / mutation / sequence groups
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- - **Cross-model locality score** — Pearson correlation of activation profiles
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- - **Explainability Strength Score** — 0–1 composite quality metric
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-
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- ## Confidence Levels
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- `High` / `Moderate` / `Low` based on model agreement, ESS, and counterfactual magnitude.
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- ## Disclaimer
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- For **research use only**. Not a clinical diagnostic tool.
 
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  title: Mutation Explainability Intelligence System
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  emoji: 🧬
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  colorFrom: blue
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+ colorTo: indigo
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  sdk: gradio
 
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  app_file: app.py
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  pinned: false
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  license: mit
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  tags:
 
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  - bioinformatics
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+ - genomics
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  - explainability
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+ - pytorch
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+ short_description: Explanation-first tri-model genomic variant analysis
 
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  ---
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+ # 🧬 Mutation Explainability Intelligence System
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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+ Three-model ensemble variant analysis with explanation before prediction.
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+ Models: `nileshhanotia/mutation-predictor-splice`, `mutation-predictor-v4`, `mutation-pathogenicity-predictor`
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+ ⚠️ For research use only. Not a clinical diagnostic tool.