Integrating Pharmacogenomics into Personalized Medicine: A Bioinformatics Pipeline for Predicting Drug Toxicities
Program: Applied Biotechnology Master's Degree — Research and Development
Location: Chicago, Illinois (hybrid)
Student: Sarah Evans
This project implements a comprehensive RStudio-based pharmacogenomic bioinformatics pipeline designed to retrieve, annotate, and visualize clinically actionable genetic variants associated with drug response and toxicity. The primary goal is to develop a reproducible framework that predicts adverse drug reaction (ADR) risk and interprets genotype–phenotype relationships across six key pharmacogenes: DPYD, UGT1A1, TPMT, NUDT15, CYP2C19, and SLCO1B1. By leveraging the Ensembl REST API and integrating clinical guidance from CPIC and PharmGKB, the pipeline provides variant annotation, risk stratification, and visual analytics. This system demonstrates a proof of concept for automating pharmacogenomic interpretation and translating raw variant data into clinically interpretable outputs for personalized medicine.