Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders

Abstract

The next generation massively parallel sequencing has now been widely applied to clinical molecular diagnoses of human genetic disorders. This article reviews the evolution of next generation sequencing (NGS), the target sequence enrichment methods, principles and chemistry of various platforms, panel design, clinical validation, examples of clinically available panels, challenges and diagnostic yields. This review article describes how NGS can be applied to clinical diagnosis, advantages and challenges of the methodologies.