Translational bioinformatics
Translational bioinformatics refers to the subfield of informatics that extracts new knowledge from voluminous amounts of biological data, particularly molecular data, to enable precision medicine. Though which types of molecular data spans a broad spectrum including genomic, proteomic, metabolomic, epigenomic, and other data, much of the focus to date has been on genomic data. In this chapter we describe key methodological concepts on which translational bioinformatics is based, enabling molecular biomarker discovery. We also explore ways in which these methods have been applied to create new biological knowledge that actually informs patient care. We describe some ways in which the methods and technologies covered in detail in other chapters, e.g. ontologies and natural language processing, have been applied in the context of molecular data, and highlight the way genomic data in particular is being used to inform therapeutic interventions.
