Advantages of genome sequencing by long-read sequencer using SMRT technology in medical area
Open accessAbstract
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.
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Tools like PacBio's SMRT Analysis and Oxford Nanopore's MinION-based Minimap2 have been specifically designed for long reads and are adept at untangling complex genomic architectures and reducing gaps in assemblies.
“Tools like PacBio's SMRT Analysis and Oxford Nanopore's MinION-based Minimap2 have been specifically designed for long reads and are adept at untangling complex genomic architectures and reducing gaps in assemblies [7].”
From Whole-Genome Alignment: Methods, Challenges, and Future Directions (2024) · cites this paper as [7]
The Introduction and Mechanism and performance sections say PacBio SMRT long reads help resolve difficult regions and structural variations. The Applications section describes HGAP for assembling PacBio long reads. Our copy does not identify SMRT Analysis or Minimap2, discuss Oxford Nanopore tools, or attribute reduced assembly gaps to those named tools. (LLM, conf=0.87)
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Bharti, R., & Grimm, D. G. (2021) · Briefings in Bioinformatics · doi:10.1093/bib/bbz155 · Cited by 592 · see citing works
Whole-Genome Alignment: Methods, Challenges, and Future Directions
Saada, B., Zhang, T., Siga, E., Zhang, J., & Magalhães Muniz, M. M. (2024) · Applied Sciences · doi:10.3390/app14114837 · Cited by 15 · see citing works
- Authors
- Nakano, K., Shiroma, A., Shimoji, M., Tamotsu, H., Ashimine, N., Ohki, S., Shinzato, M., Minami, M., Nakanishi, T., Teruya, K., Satou, K., & Hirano, T.
- Corresponding author
- Nakano, Kazuma
- Venue
- Human Cell
- Published
- 2017-03-31
- Volume
- 30
- Issue
- 3
- Pages
- 149-161
- ISSN
- 0914-7470 (ISSN-L)
- 1749-0774
- PMC
- PMC5486853
- OpenAlex
- W2601346929
- Cited by
- 182
- References
- 1
- Citations by year
- 2026: 4 · 2025: 11 · 2024: 14 · 2023: 14 · 2022: 21 · 2021: 25 · 2020: 30 · 2019: 33 · 2018: 25 · 2017: 5
- FWCI
- 2.41
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Human Cell (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Institute of Standards and Technology
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- single-molecule real-time sequencing, long-read sequencing, whole genome sequencing, viral genome sequencing, bacterial genome assembly, plant genome assembly, clinical genomics
- MeSH terms
- Animals, Communicable Diseases, Humans, Genome, Genome, Viral, Genome, Bacterial, Sequence Analysis, DNA, Genome, Plant, DNA Methylation
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