Abstract

Next-Generation sequencing is a widespread technology of sequencing which is used in genomics research and biotechnology, although it comes with many shortcomings such as short read length or polymerase chain reactions (PCR) bias. In this review, a brief introduction is provided to the Helicos Biosciences true single-molecule sequencing (tSMS), Pacific Biosciences single-molecule real-time (SMRT) sequencing and Oxford Nanopore single-molecule sequencing technologies. In comparison with both first- and second-generation sequencing technologies, third-generation sequencing such as nanopore and photoelectron high-throughput sequencing technologies have the advantages of ultra-long read length and no PCR bias, which help to study repetitive regions of the genome and complex structural variants, thus correctly identifying potential gene mutations in various diseases, and are important for diagnosis and treatment of various diseases. This paper focuses on the sequencing principles of nanopore and photoelectron high-throughput sequencing technologies as well as their applications in cancer, pathogen detection and genetic diseases.

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