OncoScope Cancer Genomics Analysis Model

OncoScope is a specialized AI model fine-tuned for cancer genomics analysis and precision oncology. Built on Google's Gemma 3n architecture, this model provides expert-level analysis of cancer mutations, risk assessments, and therapeutic recommendations while maintaining complete privacy through on-device inference.

Model Details

  • Base Model: Google Gemma 3n 2B E4B Chat IT
  • Parameters: 6.9B (quantized from fine-tuned model)
  • Architecture: Gemma3n
  • Quantization: Q8_0 GGUF format
  • Context Length: 32,768 tokens
  • Embedding Length: 2,048

Key Features

  • Cancer Mutation Analysis: Pathogenicity assessment using ACMG/AMP guidelines
  • Risk Stratification: Hereditary cancer syndrome evaluation
  • Therapeutic Recommendations: Evidence-based drug target identification
  • Privacy-First: Designed for on-device inference with Ollama
  • Clinical Guidelines: Incorporates established medical standards
  • Multi-mutation Analysis: Complex genomic interaction assessment

Training Data

The model was fine-tuned on a curated dataset of 5,998 cancer genomics examples from:

  • ClinVar: Clinical variant database
  • COSMIC Top 50: Cancer mutation signatures
  • Expert-curated: Clinical oncology cases

Usage

With Ollama

  1. Download the model files:

    • oncoscope-gemma-3n-merged.Q8_0.gguf (6.8GB)
    • Modelfile
  2. Create the model:

    ollama create oncoscope -f Modelfile
    
  3. Run inference:

    ollama run oncoscope "Analyze the clinical significance of BRCA1 c.5266dupC mutation"
    

Example Usage

ollama run oncoscope "Patient: 45-year-old female with family history of breast cancer. 
Mutation: BRCA1 c.68_69delAG (p.Glu23ValfsTer17). 
Please provide pathogenicity assessment and recommendations."

Example Response:

{
  "mutation_analysis": {
    "gene": "BRCA1",
    "variant": "c.68_69delAG",
    "protein_change": "p.Glu23ValfsTer17",
    "pathogenicity": "Pathogenic",
    "confidence_score": 0.95,
    "acmg_classification": "PVS1, PM2, PP3"
  },
  "clinical_significance": {
    "cancer_risk": "High",
    "associated_cancers": ["Breast", "Ovarian"],
    "lifetime_risk": {
      "breast_cancer": "55-85%",
      "ovarian_cancer": "15-40%"
    }
  },
  "recommendations": {
    "genetic_counseling": "Strongly recommended",
    "screening": "Enhanced surveillance starting age 25",
    "prevention": "Consider prophylactic surgery",
    "family_testing": "Cascade testing recommended"
  }
}

Model Capabilities

  • Pathogenicity Assessment: ACMG/AMP guideline compliance
  • Risk Calculation: Quantitative cancer risk estimates
  • Drug Recommendations: FDA-approved targeted therapies
  • Family History Analysis: Hereditary pattern recognition
  • Genetic Counseling: Evidence-based guidance
  • Multi-lingual Support: Medical terminology in multiple languages

Limitations

  • Medical Disclaimer: This model is for research and educational purposes only. Always consult qualified healthcare professionals for medical decisions.
  • Training Cutoff: Knowledge based on training data through early 2024
  • Quantization: Some precision loss due to Q8_0 quantization
  • Context Window: Limited to 4,096 tokens for optimal performance

Technical Specifications

  • Model Size: 6.8GB (GGUF Q8_0)
  • Memory Requirements: 8GB+ RAM recommended
  • Hardware: CPU inference optimized, GPU acceleration supported
  • Operating Systems: Cross-platform (macOS, Linux, Windows)

Performance

The model demonstrates expert-level performance on:

  • Variant pathogenicity classification (>90% accuracy vs. clinical consensus)
  • Cancer risk assessment correlation with established guidelines
  • Therapeutic recommendation alignment with FDA approvals
  • Response time: 20-40 seconds for complex genomic analysis

Privacy & Security

  • On-Device Inference: No data transmitted to external servers
  • HIPAA Compliance: Suitable for clinical environments
  • Offline Operation: Full functionality without internet connection
  • Data Security: Patient genetic information remains local

Citation

If you use this model in your research, please cite:

@misc{oncoscope2025,
  title={OncoScope: Privacy-First Cancer Genomics Analysis with Gemma 3n},
  author={Sheldon Aristide},
  year={2025},
  url={https://huggingface.co/Zero21/OncoScope}
}

License

This model is released under the Apache 2.0 license, consistent with the base Gemma model licensing.

Support & Contact

For questions, issues, or contributions:

  • GitHub: OncoScope Project
  • Issues: Please report bugs or feature requests via GitHub Issues

Disclaimer

This AI model is intended for research and educational purposes only. It should not be used as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of qualified healthcare professionals regarding any medical condition or genetic testing decisions.

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