1.
Chinese Pediatric Emergency Medicine
;
(12): 659-662, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-908353
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.