Bioinformatics in Gene and Genome Analysis

Gene and genome analysis play important roles in molecular biology research and individualized medicine. Thanks to the development of sequencing techniques, sequencing data is getting more and more abundant, which requires bioinformatic tools to handle. As a combination of computational methods, statistics, and molecular biology, bioinformatics is a bridge between sequencing data and clinical interpretation. Via a half of decade development, bioinformatics has obtained novel achievements in data storage, assembly's speed and accuracy, variant identification, and friendly-to-user interfaces. In this chapter, we focus on the history and development of bioinformatics as well as introduced the principles and several popular computational tools for each step in the workflow of gene and genome analysis, including data generation, genome assembly, annotation, comparative analysis, variant calling, and finally interpretation. Since the genomes of prokaryotes are distinguished from eukaryotes, we also mentioned the differences in the data process between humans as well as animals and microorganisms.