Xiao Tiantian, Zhou Wenhao
Clinic of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China.
Department of Neonatology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu 611731, China.
Transl Pediatr. 2020 Apr;9(2):163-173. doi: 10.21037/tp.2020.03.06.
Genomic sequencing technologies have revolutionized mutation detection of the genetic diseases in the past few years. In recent years, the third generation sequencing (TGS) has been gaining insight into more genetic diseases owing to the single molecular and real time sequencing technology. This paper reviews the genomic sequencing revolutionary history first and then focuses on the genetic diseases discovered through the TGS and the clinical effects of the TGS, which is followed by the discussion of the improvement in the bioinformatic analysis for the TGS and its limitations. In summary, the TGS has been enhancing the diagnostic accuracy of genetic diseases in molecular level as well as paving a new way for basic researches and therapies.
在过去几年中,基因组测序技术彻底改变了遗传疾病的突变检测。近年来,由于单分子实时测序技术,第三代测序(TGS)对更多遗传疾病有了深入了解。本文首先回顾了基因组测序的变革历程,然后重点介绍通过TGS发现的遗传疾病以及TGS的临床效果,接着讨论了TGS生物信息学分析的改进及其局限性。总之,TGS在分子水平上提高了遗传疾病的诊断准确性,同时为基础研究和治疗开辟了一条新途径。