The emerging field of clinical Bioinformatics: Infrastructure, analytical tools, and knowledge bases

摘要

The availability of cost effective and fast genome sequencing techniques has paved the way for a personalized medical practice. The new sequencing technology produces huge datasets with different characteristics and the analysis has evolved from a single program to a workflow of tens of analytical steps, starting from the analysis of raw data until generating clinical reports. The mix between big data, analysis workflows, and clinical requirements has shaped the field of clinical bioinformatics. In this paper, we review the basic components of this field, including computational infrastructure, analytical workflows, and knowledge bases for interpretation of results and for reaching clinical decisions.