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title: Mutation
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sdk: gradio
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sdk_version:
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app_file: app.py
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pinned: false
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license:
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---
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title: Mutation Explainability Intelligence System
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emoji: π§¬
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colorFrom: blue
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sdk: gradio
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sdk_version: 4.31.5
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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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- clinical-genomics
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- pytorch
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- xai
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short_description: Explanation-first tri-model genomic variant analysis
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---
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# 𧬠Mutation Explainability Intelligence System
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**Explanation before prediction. Always.**
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## Models used
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| Model | Repo |
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|---|---|
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| Splice disruption (MutationPredictorCNN_v2) | `nileshhanotia/mutation-predictor-splice` |
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| Protein context v4 (MutationPredictorCNN_v2) | `nileshhanotia/mutation-predictor-v4` |
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| Classic pathogenicity (MutationPredictorCNN) | `nileshhanotia/mutation-pathogenicity-predictor` |
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## Internal signals extracted
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From each model β nothing redesigned, internal hooks only:
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- **conv3 activation norm profile** β per-nucleotide CNN signal (99 positions)
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- **Gradient attribution map** β input-gradient backward pass
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- **Mutation-centered peak** β activation value at the specific mutation position
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- **Splice aura distance** β distance to nearest GT donor / AG acceptor
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- **Counterfactual delta** β probability range across all alternative substitutions
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- **Feature ablation response** β causal effect of zeroing splice / region / mutation features
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- **Risk tier classification** β PATHOGENIC β BENIGN
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## Cross-model explainability metrics
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| Metric | Description |
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|---|---|
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| Mutation Peak Ratio | peak_signal / mean_signal across window |
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| Counterfactual Magnitude | max probability range across alternatives |
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| Cross-Model Locality Score | cosine similarity of conv3 profiles |
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| Signal Concentration Index | fraction of activation within Β±5bp of mutation |
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| Explainability Strength Score | composite 0β1 score |
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| Activation Pattern Type | Sharp / Broad / Flat |
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## Dominant mechanism classification
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- **Splice-driven** β splice model dominant + proximity to splice site
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- **Protein-driven** β v4 + classic dominant
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- **Consensus** β all three models agree
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- **Ambiguous** β divergent signals
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## β οΈ Disclaimer
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For research use only. Not a clinical diagnostic tool.
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