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Related Concept Videos

Sanger Sequencing01:57

Sanger Sequencing

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...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Mismatch Repair01:36

Mismatch Repair

Overview
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
Next-generation Sequencing03:00

Next-generation Sequencing

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.
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).

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Related Experiment Video

Updated: Jun 22, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Considerations in adding mutation detection services to a sequencing core facility.

M R Bonner1, L W Ballard

  • 1Laboratory of Molecular Systematics and Evolution, University of Arizona, Tucson, AZ 85721, USA.

Journal of Biomolecular Techniques : JBT
|June 6, 2009
PubMed
Summary

High-throughput mutation detection methods like denaturing high-performance liquid chromatography and single-strand conformation polymorphism analysis are crucial for identifying single nucleotide polymorphisms (SNPs). These techniques enable efficient screening of large sample sets for genomic variation and disease research.

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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
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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

Related Experiment Videos

Last Updated: Jun 22, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

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

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

Area of Science:

  • Genomics
  • Molecular Biology
  • Biotechnology

Background:

  • Single nucleotide polymorphisms (SNPs) are key to understanding genomic variation and disease genetics.
  • High-throughput, high-accuracy SNP detection methods are needed for efficient genetic analysis.
  • Sequencing core facilities can offer advanced genome analysis services.

Purpose of the Study:

  • To evaluate mutation detection methods for identifying informative single nucleotide polymorphisms (SNPs).
  • To assess the utility of denaturing high-performance liquid chromatography (DHPLC) and single-strand conformation polymorphism (SSCP) analysis in a sequencing core facility setting.

Main Methods:

  • Denaturing high-performance liquid chromatography (DHPLC) for mutation detection.
  • Single-strand conformation polymorphism (SSCP) analysis for mutation screening.
  • Application of these methods in a sequencing core facility environment.

Main Results:

  • DHPLC and SSCP analysis are effective for screening large sample sets to identify novel SNPs.
  • These methods reduce the need to sequence every sample, improving cost-effectiveness.
  • More samples can be analyzed compared to sequencing alone, enhancing throughput.

Conclusions:

  • DHPLC and SSCP are valuable tools for SNP discovery in genomic research.
  • Implementing these mutation detection methods enhances the capabilities of sequencing core facilities.
  • These approaches offer an economically feasible solution for large-scale SNP analysis.