Next-generation sequencing: an expedition from workstation to clinical applications

Abstract Next-generation sequencing (NGS) technologies have emerged as a powerful tool in the field of molecular biology and clinical applications. With the magnitude and efficiency of sequencing that can now be accomplished, NGS technologies have revolutionized the field of genomics and clinical diagnosis. The competence of NGS technologies has provided unprecedented opportunities to researchers to address an increasingly diverse range of biologic problems. Consistent efforts have been made by researchers and healthcare providers to translate the potential of NGS into clinical applications. Disease diagnostics, pathogen detection, and genetic mutations are some of the growing clinical areas where NGS is widely used. However, there are major challenges in translational bioinformatics that include storage and interpretation of complex datasets that require high computational power and requirement of well-trained professionals. Moreover, a combined effort between data analysts, geneticists, and physicians is required for the best NGS clinical applications. This chapter highlights the main aspects of NGS in clinical applications, recent advancements, and the significance of insights gained for future directions.