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README.md

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+---
+language: en
+license: apache-2.0
+library_name: pytorch
+pipeline_tag: text-classification
+tags:
+- genomics
+- mutation
+- pathogenicity
+- splice
+- explainable-ai
+- biology
+- clinical-ai
+---
+
+# 🧬 MutationPredictorCNN_v2 — Splice-Aware Pathogenicity Predictor
+
+## Model Summary
+
+MutationPredictorCNN_v2 is a splice-aware convolutional neural network designed to predict pathogenicity of single nucleotide variants using genomic sequence context and splice-aware features.
+
+Supports built-in explainability:
+
+• CNN activation heatmap  
+• Gradient attribution  
+• Counterfactual mutation analysis  
+• Feature ablation analysis  
+• Splice distance analysis  
+
+Validation accuracy: 74.8%
+
+---
+
+## Intended Use
+
+Research use cases:
+
+• Genomic variant interpretation  
+• Explainable AI research  
+• Variant prioritization  
+• Educational and academic research  
+
+NOT intended for clinical diagnostic use.
+
+---
+
+## Model Architecture
+
+CNN-based architecture:
+
+Input: 1106 features  
+Output: Pathogenicity probability  
+
+Explainability heads:
+
+• Mutation importance  
+• Region importance  
+• Splice importance  
+
+---
+
+## Training Data
+
+Source: ClinVar
+
+Dataset size:
+
+100,000 variants  
+50,000 pathogenic  
+50,000 benign  
+
+Sequence window: 99 bp
+
+---
+
+## Performance
+
+Validation accuracy:
+
+74.8%
+
+Balanced dataset.
+
+---
+
+## Explainability
+
+Provides multi-level explainability:
+
+• Activation heatmap  
+• Mutation rank percentile  
+• Gradient attribution map  
+• Counterfactual analysis  
+• Feature ablation analysis  
+
+---
+
+## Limitations
+
+Supports only:
+
+• Single nucleotide variants  
+• 99 bp context window  
+
+Does not include:
+
+• Conservation scores  
+• Protein structure  
+• Expression context  
+
+---
+
+## Disclaimer
+
+⚠ Research use only  
+Not a clinical diagnostic tool  
+
+---
+
+## Maintainer
+
+Nilesh Hanotia