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Blood Transcriptomics for Precision Medicine

This project explores transcriptomic data from blood and brain samples to examine cell-type-specific gene expression patterns relevant to inflammation and neurodegeneration. The work focuses on exploratory analysis, clustering, and visualization to understand how molecular profiles can inform precision and preventive medicine research.


Data Sources

  • GSE63060 - Normalized blood transcriptomic data
  • GSM5645890 - Brain metastasis single-cell RNA-seq data with cell type annotations

Project Goals

  • Visualize and cluster cell types based on gene expression
  • Compare inflammatory and Alzheimer’s-related genes across cell types
  • Use PCA and KMeans to define digital phenotypes
  • Score inflammatory burden per cell type
  • Allow interactive gene panel selection

Key Analyses

Method Purpose
Data normalization Ensures comparability across samples
Gene symbol mapping Maps probe IDs to gene names
Heatmaps & PCA Highlights top 20 variable genes
Alzheimer’s panel Focuses on genes like APP, MAPT, APOE, TREM2
Inflammation score Combines IL1B, IL6, TNF, CXCL8 expression
Clustering KMeans on PCA-transformed data

Output Preview

Here are a few key visuals generated from the analysis:

  • Alzheimer’s Genes Across Cell Types

  • Inflammation Scores by Cell Type

  • Top Variable Genes Heatmap

  • Cell Type Clusters (PCA)

These figures help highlight which cell types may be more active in inflammation or neurodegenerative pathways, offering insights into disease mechanisms from a systems biology view.


How to Use

  1. Open the notebook: Blood_Transcriptomics_Analysis.ipynb
  2. Follow the markdown explanations step-by-step
  3. Choose your own genes of interest when prompted
  4. Review the plots and summary results

Relevance to Systems Biology

This project reflects principles of data-driven systems medicine:

  • Integrates data from bulk and single-cell studies
  • Uses dimension reduction + unsupervised clustering
  • Builds quantitative cell-type signatures for immune/inflammatory profiling

It demonstrates how large-scale data can inform precision diagnostics and cell-specific insights — bridging data science and translational research.


Future Work

  • Add more patient data over time to track changes (like in aging or treatment)
  • Connect gene expression to real-world health info (e.g., symptoms, diagnosis)
  • Build a basic version of a digital twin – a personal model using gene activity
  • Try more clustering or machine learning methods for deeper patterns
  • Explore other diseases beyond inflammation or Alzheimer’s

Author

Zareen Rahman

Motivated by systems biology, and currently exploring opportunities to assist with translational research.


License

MIT License – feel free to use or extend this work.

About

Transcriptomic profiling of blood and brain metastasis samples for cell-type-specific analysis and precision medicine.

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