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README.md
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title: Mutation Explainability Intelligence System
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emoji: 🧬
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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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- XAI
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---
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# Mutation Explainability Intelligence System
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**Explainability-first** three-model ensemble for SNV pathogenicity prediction.
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The system answers five core questions **before** presenting any prediction score:
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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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## Models
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| Model | Repo | Architecture |
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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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## Input
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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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## Explainability Signals
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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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## Confidence Levels
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For
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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.
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