In recent years, the application of the long read single-molecule sequencing technology in clinical genetics testing has been increasingly widespread. Due to its sequencing process not requiring amplification and its characteristic of single-molecule sequencing and long reads, it has unique advantages compared to traditional molecular genetics testing such as Sanger sequencing, next-generation sequencing and chromosomal microarray. In this article, its application in the detection of chromosomal structural abnormalities, monogenic diseases, and preimplantation genetic testing for monogenic diseases were discussed. Along with a comparative analysis of the advantages and disadvantages of the long read single-molecule sequencing technology in these areas compared to traditional molecular genetics testing techniques. This article preliminarily explores the application prospects and value of the long read single-molecule sequencing technology in clinical genetics testing.
