PacBio Sequencing and Its Applications
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 P...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Oxford University Press
2015-10-01
|
| Series: | Genomics, Proteomics & Bioinformatics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1672022915001345 |
| _version_ | 1827159273780543488 |
|---|---|
| author | Anthony Rhoads Kin Fai Au |
| author_facet | Anthony Rhoads Kin Fai Au |
| author_sort | Anthony Rhoads |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T17:48:04Z |
| format | Article |
| id | doaj.art-6576129798aa48cfa5f9502542687cee |
| institution | Directory Open Access Journal |
| issn | 1672-0229 |
| language | English |
| last_indexed | 2025-03-20T23:54:31Z |
| publishDate | 2015-10-01 |
| publisher | Oxford University Press |
| record_format | Article |
| series | Genomics, Proteomics & Bioinformatics |
| spelling | doaj.art-6576129798aa48cfa5f9502542687cee2024-08-03T11:59:12ZengOxford University PressGenomics, Proteomics & Bioinformatics1672-02292015-10-0113527828910.1016/j.gpb.2015.08.002PacBio Sequencing and Its ApplicationsAnthony Rhoads0Kin Fai Au1Department of Biostatistics, University of Iowa, Iowa City, IA 52242, USADepartment of Biostatistics, University of Iowa, Iowa City, IA 52242, USASingle-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.http://www.sciencedirect.com/science/article/pii/S1672022915001345Third-generation sequencingDe novo assemblyGene isoform detectionMethylationHybrid sequencing |
| spellingShingle | Anthony Rhoads Kin Fai Au PacBio Sequencing and Its Applications Genomics, Proteomics & Bioinformatics Third-generation sequencing De novo assembly Gene isoform detection Methylation Hybrid sequencing |
| title | PacBio Sequencing and Its Applications |
| title_full | PacBio Sequencing and Its Applications |
| title_fullStr | PacBio Sequencing and Its Applications |
| title_full_unstemmed | PacBio Sequencing and Its Applications |
| title_short | PacBio Sequencing and Its Applications |
| title_sort | pacbio sequencing and its applications |
| topic | Third-generation sequencing De novo assembly Gene isoform detection Methylation Hybrid sequencing |
| url | http://www.sciencedirect.com/science/article/pii/S1672022915001345 |
| work_keys_str_mv | AT anthonyrhoads pacbiosequencinganditsapplications AT kinfaiau pacbiosequencinganditsapplications |