An introduction to biomedical informatics

Biomedical informatics can be defined as a multidisciplinary subject applying information-based, i.e. computational and statistical, technologies to clinical, genomic, and proteomic studies. One of its major components involves healthcare informatics, as it focuses on advancing the practice of medicine. The other component focuses on basic and applied research, integrating clinical perspectives into genomic and proteomic studies to address issues of clinical significance. Biomedical informatics is a comprehensive subject in the study of human disease, encompassing a cycle of from bedside to bench and then from bench to bedside. This chapter will give an overview of human genetic studies in the genomic era from the biomedical informatics perspective. Included topics are carefully selected to minimize overlap with other chapters, while at the same time presenting a relatively comprehensive picture. It is expected that, after reading this chapter and others on bioinformatics in this book, readers will have a deeper understanding of the importance of bioinformatics and biomedical informatics in the study of human genetics as well as the differences in their approach. Conscientiously keeping up with and open-mindedly adopting new technologies developed in bioinformatics and biomedical informatics has proven invaluable to modern human genetic studies.