Precision Oncology and Interpretable Machine Learning

Revolutionizing Cancer Detection with AI-Powered Single-Cell Analysis
Haider Rizvi & Rajeev Prasad

In the fight against cancer, identifying tumor cells among healthy tissue remains one of the most critical challenges in modern oncology. Our groundbreaking project, "Ghost Cell Busters," leverages cutting-edge machine learning and single-cell RNA sequencing to revolutionize how we detect and understand cancer at the cellular level.

3 Cancer Datasets
95% Model Accuracy
40+ Oncogenes Analyzed
100K+ Single Cells

The Challenge: Finding Needles in a Haystack

Cancer diagnosis traditionally relies on tissue morphology and bulk molecular profiling, but these methods often miss the heterogeneity that drives treatment resistance. Single-cell RNA sequencing has opened new frontiers, but distinguishing tumor cells from normal cells in complex tissue samples remains computationally challenging.

Key Insight: Our machine learning models successfully identified tumor cells with 95% accuracy by analyzing expression patterns of oncogenes, cell cycle markers, and genomic instability signatures across three independent breast cancer datasets.

Our Innovative Approach

Multi-Dataset Validation Strategy

We analyzed three comprehensive cancer datasets (GSE176078, GSE161529, GSE180286) to ensure our models generalize across different patient populations and experimental conditions. This cross-validation approach is crucial for developing clinically applicable tools.

Phase 1: Data Engineering & Feature Discovery

We engineered novel cellular features including CNV scores, cell cycle signatures, apoptosis markers, and oncogene activation patterns to create comprehensive cellular fingerprints.

Phase 2: Machine Learning Model Development

Using XGBoost and advanced ensemble methods, we developed interpretable models that not only classify cells but explain the biological reasoning behind each prediction.

Phase 3: Biological Validation & Pathway Analysis

We validated our predictions using orthogonal measures like genomic instability and performed comprehensive pathway analysis to identify therapeutic targets.

Phase 4: Clinical Translation & Drug Target Discovery

Integration with drug databases revealed actionable therapeutic targets, bridging the gap between computational discovery and clinical application.

Breakthrough Discoveries

🎯 Precision Tumor Detection

Our models achieved remarkable accuracy by focusing on key oncogenes including MYC, CCND1, ERBB2, and CDK4. These genes showed consistent upregulation in predicted tumor cells across all datasets, providing robust biomarkers for cancer detection.

🧬 Genomic Instability as Validation

A critical breakthrough was using CNV (Copy Number Variation) scores as independent validation. Predicted tumor cells consistently showed higher genomic instability, confirming our models were capturing genuine cancer hallmarks rather than technical artifacts.

🎨 Network Biology Insights

We visualized complex oncogenic networks including the PI3K–MAPK–EGFR axis, CDK4–CDK6–CCND1 pathway, and MYC signaling cascade. These network analyses revealed interconnected pathways driving tumor progression and identified multiple intervention points.

Clinical Impact: Our analysis identified several FDA-approved drugs (Palbociclib, Erlotinib, Venetoclax) that target highly expressed oncogenes in our predicted tumor cells, suggesting immediate clinical applications.

Technical Innovation

Python Scanpy XGBoost SHAP NetworkX Single-cell RNA-seq Machine Learning UMAP Pathway Analysis

Our computational pipeline integrates state-of-the-art bioinformatics tools with advanced machine learning frameworks. The use of SHAP (SHapley Additive exPlanations) for model interpretation ensures that our predictions are not just accurate but also biologically meaningful and clinically interpretable.

Future Implications

This work represents a significant step toward precision oncology, where treatment decisions are guided by comprehensive cellular analysis rather than broad population averages. Our interpretable AI approach ensures that clinicians can understand and trust the computational predictions, accelerating adoption in clinical settings.

Next Steps

Explore Our Research

Dive into our comprehensive analysis, examine our code, and discover how AI is transforming cancer detection.

View on GitHub Browse Notebooks

Meet the Researchers

Haider Rizvi - GitHub Profile
Rajeev Prasad - GitHub Profile

Post-Graduate students in Applied Data Science, passionate about applying Data Science to solve real-world problems in healthcare and beyond.