Integration of Omics and Phenotypic Data for Precision Medicine

Over the past two decades, biomedical research is moving toward a big-data-driven approach. The underlying causes of this transition include the ability to gather genetic or molecular profiles of humans faster, the increasing adoption of electronic health record (EHR) system, and the growing interest in linking omics and phenotypic data for analysis. The integration of individual's biology data (e.g., genomics, proteomics, metabolomics), and health-care data has created unprecedented opportunities for precision medicine, that is, a medical model that uses a patient's unique information, mainly genetic, to prevent, diagnose, or treat disease. This chapter reviewed the research opportunities and applications of integrating omics and phenotypic data for precision medicine, such as understanding the relationship between genotype and phenotype, disease subtyping, and diagnosis or prediction of adverse outcomes. We reviewed the recent advanced methods, particularly the machine learning and deep learning-based approaches used for harnessing and harmonizing the multiomics and phenotypic data to address these applications. We finally discussed the challenges and future directions.