NGS analysis of heterogeneous retinitis pigmentosa

Abstract

One of the most significant milestones in biomedical research was the completion of the human genome sequencing project. The subsequent invention of Next-Generation Sequencing (NGS) technology has revolutionized molecular biology, genetics, and genomics. Already, medicine is being tailored to take into account an individual's genome. In particular, diseases with diverse genetic causes, such as retinitis pigmentosa (RP), are poised for the clinical use of NGS. In this chapter, we discuss the application of NGS technology in the molecular diagnosis of heterogeneous RP. By comparing the current molecular diagnostic methods with the NGS-based approach, we conclude that the NGS method is much more comprehensive and cost effective. We speculate that with further improvement and validation, NGS will become the method of choice for molecular diagnosis of RP in the near future.