Development of high-throughput sequencing and its application and prospect in clinical molecular diagnosis / 中华检验医学杂志

ABSTRACT

High-throughput sequencing, also known as next-generation sequencing (NGS), is a new type of genetic screening and diagnostic technology. Its continuous innovation acceleratesthe understanding of genetic markers and the molecular mechanisms of disease, especially for complex hereditary diseases. With the development of NGS technology, especially the emergence of the targeted genome sequencing, genome-wide exome sequencing and genome-wide sequencing projects, NGS has been clinically applied indetection of SNVs, structural rearrangements and CNVs, monitoring circulating tumor DNA, and analyzing the genome regions that previously challenged the management of standard bioinformatics algorithms.