Advancing translational bioinformatics

Translational bioinformatics (TBI) is an interdisciplinary field at the intersection of bioinformatics, clinical research, and data science, aiming to bridge the gap between bench research and clinical application. It integrates molecular information (DNA, RNA, proteins, and lipids) with clinical data (patients, diseases, symptoms, lab tests, drugs etc.) turning scientific discoveries into actionable clinical insights. Despite its potential, TBI faces several challenges including data integration, biomarker validation, reproducibility, computational complexity, and time-resources constraints. This thesis tackles some of these challenges by leveraging current and emerging technologies to develop new methods for studying complex diseases.