Translational bioinformatics: Informatics, medicine, and -omics

Resumen

© 2019 Elsevier Inc. All rights reserved. This article reviews some recent achievements reported in the area of Translational Bioinformatics (TBI), which has evolved rapidly as result of the Human Genome Project and subsequent -omic projects. Our goal is to support the understanding and enhancement of informatics research and applications at the intersection between medicine and the -omics fields. We discuss current progress and directions in the road ahead for this field, which already involves a significant number of dedicated professionals in research projects and conferences. Through a literature review, a list of topics of informatics research in TBI has been created, including decision support systems, natural language processing, standards, information retrieval, data, text and opinion mining, electronic health records (EHRs), and data integration. We also describe examples of the most challenging categories for research, such as discovery in EHRs, pharmacogenomics, drug repurposing, and genomic testing for individuals. We conclude with an overview of some of the challenges and opportunities presented by this field for research and education, particularly from the perspective of precision medicine.