Translational Biomedical Informatics

Recent technological advances in next-generation sequencing (NGS) provide unprecedented power to sequence personal genomes, characterize genomic landscapes, and detect a large number of sequence variants. The discovery of disease-causing variants in patients’ genomes has dramatically changed our perspective on precision medicine. This chapter provides an overview of sequence variant detection and analysis in NGS study. We outline the general methods for identifying different types of sequence variants from NGS data. We summarize the common approaches for analyzing and visualizing casual variants associated with complex diseases on precision medicine informatics.