NGS-based clinical diagnosis of genetically heterogeneous disorders

Abstract

Next-generation sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing and increasing the throughput. NGS platforms have evolved to provide an accurate and comprehensive means for the detection of molecular mutations, and the recent focus is on using NGS technology in clinical diagnosis. NGS analysis has three major components: enrichment, sequencing, and analysis. In the last several years, enrichment technologies based on hybridization or amplifi cation principles have emerged. Similarly, sequencing platforms have continued to improve by increasing the sequencing output and decreasing the sequencing time and cost. Various enrichment and sequencing platform combinations have been utilized for the diagnosis of genetically heterogeneous disorders, and it is the topic of discussion for this chapter. We describe the employment of NGS approaches to the diagnosis of genetically heterogeneous disorders and mention advantages and challenges of these technologies in a clinical laboratory setting.