September 22, 2019  |  

Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area.

Authors: Nakano, Kazuma and Shiroma, Akino and Shimoji, Makiko and Tamotsu, Hinako and Ashimine, Noriko and Ohki, Shun and Shinzato, Misuzu and Minami, Maiko and Nakanishi, Tetsuhiro and Teruya, Kuniko and Satou, Kazuhito and Hirano, Takashi

PacBio RS II is the first commercialized third-generation DNA sequencer able to sequence a single molecule DNA in real-time without amplification. PacBio RS II's sequencing technology is novel and unique, enabling the direct observation of DNA synthesis by DNA polymerase. PacBio RS II confers four major advantages compared to other sequencing technologies: long read lengths, high consensus accuracy, a low degree of bias, and simultaneous capability of epigenetic characterization. These advantages surmount the obstacle of sequencing genomic regions such as high/low G+C, tandem repeat, and interspersed repeat regions. Moreover, PacBio RS II is ideal for whole genome sequencing, targeted sequencing, complex population analysis, RNA sequencing, and epigenetics characterization. With PacBio RS II, we have sequenced and analyzed the genomes of many species, from viruses to humans. Herein, we summarize and review some of our key genome sequencing projects, including full-length viral sequencing, complete bacterial genome and almost-complete plant genome assemblies, and long amplicon sequencing of a disease-associated gene region. We believe that PacBio RS II is not only an effective tool for use in the basic biological sciences but also in the medical/clinical setting.

Journal: Human cell
DOI: 10.1007/s13577-017-0168-8
Year: 2017

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