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Genomics Proteomics Bioinformatics. 2015 Oct;13(5):278-89. doi: 10.1016/j.gpb.2015.08.002. Epub 2015 Nov 2.

PacBio Sequencing and Its Applications.

Author information

1
Department of Biostatistics, University of Iowa, Iowa City, IA 52242, USA.
2
Department of Biostatistics, University of Iowa, Iowa City, IA 52242, USA; Department of Internal Medicine, University of Iowa, Iowa City, IA 52242, USA. Electronic address: kinfai-au@uiowa.edu.

Abstract

Single-molecule, real-time sequencing developed by Pacific BioSciences offers longer read lengths than the second-generation sequencing (SGS) technologies, making it well-suited for unsolved problems in genome, transcriptome, and epigenetics research. The highly-contiguous de novo assemblies using PacBio sequencing can close gaps in current reference assemblies and characterize structural variation (SV) in personal genomes. With longer reads, we can sequence through extended repetitive regions and detect mutations, many of which are associated with diseases. Moreover, PacBio transcriptome sequencing is advantageous for the identification of gene isoforms and facilitates reliable discoveries of novel genes and novel isoforms of annotated genes, due to its ability to sequence full-length transcripts or fragments with significant lengths. Additionally, PacBio's sequencing technique provides information that is useful for the direct detection of base modifications, such as methylation. In addition to using PacBio sequencing alone, many hybrid sequencing strategies have been developed to make use of more accurate short reads in conjunction with PacBio long reads. In general, hybrid sequencing strategies are more affordable and scalable especially for small-size laboratories than using PacBio Sequencing alone. The advent of PacBio sequencing has made available much information that could not be obtained via SGS alone.

KEYWORDS:

De novo assembly; Gene isoform detection; Hybrid sequencing; Methylation; Third-generation sequencing

PMID:
26542840
PMCID:
PMC4678779
DOI:
10.1016/j.gpb.2015.08.002
[Indexed for MEDLINE]
Free PMC Article
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