This project outlines a proposed hybrid study to develop and validate a deep learning pharmacogenomics (PGx) model that predicts lithium response in individuals with bipolar disorder (BD). The methodology integrates genomic, transcriptomic, methylation, and clinical data, using both retrospective datasets and a newly recruited prospective cohort.
- Combines data from ConLiGen, PGBD, and 100 new BD patients
- Multi-omic inputs: SNPs, RNA-seq, DNA methylation, and clinical scales
- Late-fusion neural network with interpretable outputs via SHAP
- Emphasis on ethics, bias mitigation, and Canadian-aligned data governance
methodology/rewritten_methodology_by_anushka.md: Full study design (937 words)figures/Figures_draft3.pdf: Contains Figure 1 (Timeline Schematic), Figure 2 (Model Design), and Table 1 (Methodology Summary)
- Code implementation of the model (Python/PyTorch)
- Synthetic data mockup for public demonstration
- External validation using held-out retrospective subsets
- Designed for Canadian REB approval under TCPS 2
- PIPEDA-aligned privacy protocols
- Equity-focused recruitment and fairness-aware modeling
“This project reflects the intersection of mental health, personalized medicine, and ethical AI-driven discovery.”