title: Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area.
abstract: 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.
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan. nakano@oias.or.jp.
authors.forename: Kazuma
authors.identifier: http://orcid.org/0000-0001-9908-6526
authors.initials: K
authors.lastname: Nakano
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Akino
authors.initials: A
authors.lastname: Shiroma
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Shimoji
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Hinako
authors.initials: H
authors.lastname: Tamotsu
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Ashimine
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Shun
authors.initials: S
authors.lastname: Ohki
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Misuzu
authors.initials: M
authors.lastname: Shinzato
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Maiko
authors.initials: M
authors.lastname: Minami
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Tetsuhiro
authors.initials: T
authors.lastname: Nakanishi
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Kuniko
authors.initials: K
authors.lastname: Teruya
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Kazuhito
authors.initials: K
authors.lastname: Satou
authors.affiliation: Okinawa Institute of Advanced Sciences, Uruma, Okinawa, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Hirano
mesh_terms: D000818:Animals; D003141:Communicable Diseases / Q000382:microbiology; D019175:DNA Methylation; D016678:Genome / Q000235:genetics*; D016680:Genome, Bacterial / Q000235:genetics; D018745:Genome, Plant / Q000235:genetics; D016679:Genome, Viral / Q000235:genetics; D006801:Humans; D017422:Sequence Analysis, DNA / Q000379:methods*
keywords: De novo assembly; Extra-long reads; PacBio RS II; Structural variations; Targeted sequencing