Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

RNA-seq03:21

RNA-seq

12.4K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
12.4K
Sanger Sequencing01:57

Sanger Sequencing

777.5K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
777.5K
Next-generation Sequencing03:00

Next-generation Sequencing

100.7K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
100.7K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Replacement of non-canonical interloop disulfide bond of alpaca VHH by hydrophobic amino acids.

Journal of biochemistry·2026
Same author

A Case Report of Laparoscopic Cholecystectomy in an Obese Patient With Situs Inversus Totalis.

Cureus·2026
Same author

Carrier-resolved metagenomics suggests the dual "filter-hub" function of a large freshwater lake toward incoming antibiotic resistance genes.

The Science of the total environment·2025
Same author

Dynamics of Fanconi anemia protein D2 in association with nuclear lipid droplet formation.

Journal of cell science·2025
Same author

Association between the extent of intrapulmonary spread on chest CT and false-negative results of T-SPOT.TB in pulmonary tuberculosis: a retrospective study.

BMC infectious diseases·2025
Same author

The new era shaped by environmental genome monitoring - symposium of the japanese environmental mutagen and genome society (JEMS), 2024.

Genes and environment : the official journal of the Japanese Environmental Mutagen Society·2025

Related Experiment Video

Updated: Mar 18, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K

Mutation assay using single-molecule real-time (SMRT(TM)) sequencing technology.

Tomonari Matsuda1, Shun Matsuda2, Masami Yamada3

  • 1Research Center for Environmental Quality Management, Kyoto University, Shiga, Japan ; Tomonari Matsuda, Research Center for Environmental Quality Management, Kyoto University, 1-2 Yumihama, Otsu, Shiga 520-0811 Japan.

Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society
|June 29, 2016
PubMed
Summary

This study introduces a new mutation detection method using single-molecule real-time (SMRT) sequencing. The assay accurately identifies low-frequency base substitutions, offering a powerful tool for genetic research.

Keywords:
Mutation assayPacBio RSII DNA sequencerSingle-molecule real-time (SMRT) sequencing technology

More Related Videos

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

12.4K
Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions
08:23

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

14.1K

Related Experiment Videos

Last Updated: Mar 18, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K
Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
10:41

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

12.4K
Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions
08:23

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

14.1K

Area of Science:

  • Genomics
  • Molecular Biology
  • Biotechnology

Background:

  • Developing accurate and efficient mutation detection assays is crucial for genetic research.
  • Traditional methods can be limited by phenotype dependence or throughput.
  • Single-molecule real-time (SMRT) sequencing offers a novel approach to DNA analysis.

Purpose of the Study:

  • To develop and validate a simple, phenotype-independent mutation assay.
  • To utilize SMRT sequencing technology for direct mutation detection.
  • To quantify induced base-substitution mutations in Salmonella typhimurium.

Main Methods:

  • Treatment of Salmonella typhimurium YG7108 with N-ethyl-N-nitrosourea (ENU) to induce mutations.
  • DNA extraction from treated bacterial cultures after several generations.
  • Analysis of DNA mutations using a PacBio RSII sequencer with SMRT sequencing technology.

Main Results:

  • The assay detected an ENU-induced base-substitution frequency of 15.4 per Megabase pair.
  • The mutation spectrum showed a signature consistent with ENU, primarily G:C → A:T transitions.
  • Control samples exhibited a very low base-substitution frequency (<0.12 per Megabase pair).
  • A current limitation includes the detection of artifactual insertion and deletion mutations.

Conclusions:

  • SMRT DNA sequencing enables direct detection of ultra-low frequency base-substitution mutations.
  • This technology provides a robust, phenotype-independent mutation assay.
  • The method shows high consistency with established mutation detection techniques.