Clinical practice of rapid high-throughput sequencing for rapid diagnosis of neonatal genetic diseases / 中国小儿急救医学

ABSTRACT

High-throughput sequencing technology has been widely used to diagnose neonatal genetic diseases.Compared with conventional next-generation sequencing technology, the sequencing process of rapid high-throughput sequencing is more complete and with shorter sequencing time.The rapid high-throughput sequencing can be used for timely adjustment of clinical management.This review systematically analyzes the application of rapid high-throughput sequencing technology in the diagnosis of neonatal genetic diseases, and provides a reference for its routine clinical application.