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- title: Mutation XAI
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- emoji: πŸ‘€
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- colorFrom: purple
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- colorTo: yellow
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  sdk: gradio
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- sdk_version: 6.6.0
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  app_file: app.py
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  pinned: false
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- license: apache-2.0
 
 
 
 
 
 
 
 
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  ---
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- Check out the configuration reference at https://huggingface.co/docs/hub/spaces-config-reference
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
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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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+ 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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+ # 🧬 Mutation Explainability Intelligence System
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+
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+ **Explanation before prediction. Always.**
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+
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+ ## Models used
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+
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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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+
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+ ## Internal signals extracted
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+
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+ From each model β€” nothing redesigned, internal hooks only:
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+
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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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+
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+ ## Cross-model explainability metrics
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+
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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 0–1 score |
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+ | Activation Pattern Type | Sharp / Broad / Flat |
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+
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+ ## Dominant mechanism classification
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+
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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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+
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+ ## ⚠️ Disclaimer
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+ For research use only. Not a clinical diagnostic tool.