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

Sanger Sequencing01:57

Sanger Sequencing

800.8K
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...
800.8K
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

10.5K
In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
10.5K
Next-generation Sequencing03:00

Next-generation Sequencing

87.9K
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....
87.9K

You might also read

Related Articles

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

Sort by
Same author

Clinical and genetic characterization of constitutional MLH1 promoter hypermethylation: Implications for Lynch syndrome diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Chromosome-arm-specific telomere length governs dual modes of structural genome evolution in IDH-mutant astrocytoma.

bioRxiv : the preprint server for biology·2026
Same author

Sarcomatoid urothelial carcinoma with constitutive PD-L1 overexpression.

American journal of clinical pathology·2026
Same author

DNA-junction-based personalized liquid biopsy assays could inform management of aggressive endometrial cancer.

International journal of gynecological cancer : official journal of the International Gynecological Cancer Society·2026
Same author

Functional genomics identifies therapeutic options, biomarkers, and resistance mechanisms for high-grade gliomas.

bioRxiv : the preprint server for biology·2026
Same author

Prognostic value of perioperative circulating tumor DNA (ctDNA) in endometrial cancer with high-risk features: a prospective observational study.

European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·2026
Same journal

Retraction Note: lncRNA TINCR sponges miR-214-5p to upregulate ROCK1 in hepatocellular carcinoma.

BMC medical genetics·2021
Same journal

A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.

BMC medical genetics·2020
Same journal

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis.

BMC medical genetics·2020
Same journal

DGAT1 mutations leading to delayed chronic diarrhoea: a case report.

BMC medical genetics·2020
Same journal

Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.

BMC medical genetics·2020
Same journal

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.

BMC medical genetics·2020
See all related articles

Related Experiment Video

Updated: May 3, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.0K

A simple method for gene phasing using mate pair sequencing.

Kendall W Cradic, Stephen J Murphy, Travis M Drucker

  • 1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. vasmatzis.george@mayo.edu.

BMC Medical Genetics
|February 8, 2014
PubMed
Summary
This summary is machine-generated.

We developed a new sequencing method to determine gene allele relationships. This approach accurately phases heterozygous mutations, aiding clinical diagnosis of genetic diseases.

More Related Videos

Pyrosequencing: A Simple Method for Accurate Genotyping
13:06

Pyrosequencing: A Simple Method for Accurate Genotyping

Published on: January 8, 2008

28.6K
Retroviral Scanning: Mapping MLV Integration Sites to Define Cell-specific Regulatory Regions
10:10

Retroviral Scanning: Mapping MLV Integration Sites to Define Cell-specific Regulatory Regions

Published on: May 28, 2017

7.7K

Related Experiment Videos

Last Updated: May 3, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.0K
Pyrosequencing: A Simple Method for Accurate Genotyping
13:06

Pyrosequencing: A Simple Method for Accurate Genotyping

Published on: January 8, 2008

28.6K
Retroviral Scanning: Mapping MLV Integration Sites to Define Cell-specific Regulatory Regions
10:10

Retroviral Scanning: Mapping MLV Integration Sites to Define Cell-specific Regulatory Regions

Published on: May 28, 2017

7.7K

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • Recessive gene disorders arise from mutations in both gene copies.
  • Distinguishing cis/trans configurations of mutations is crucial for diagnosing genetic diseases, especially in patients with two heterozygous mutations.
  • Current gene phasing methods are often unsuitable for clinical use due to cost, complexity, or low sensitivity.

Purpose of the Study:

  • To develop a simple, cost-effective, and sensitive method for phasing heterozygous mutations in genes.
  • To enable accurate clinical diagnosis for patients with complex genetic profiles.

Main Methods:

  • Employed long-range amplification to enrich the target gene (CYP21A2).
  • Utilized modified mate-pair sequencing to analyze gene fragments.
  • Developed statistical analysis for fragments mapping to multiple heterozygous sites.

Main Results:

  • Calculated probabilities and 99% confidence intervals for cis/trans relationships across 10 kb amplicons.
  • Phasing quality correlated with sequencing depth and read accuracy.
  • Identified PCR recombination as a primary source of error.

Conclusions:

  • Developed a simple, massively parallel sequencing method to resolve alleles with multiple heterozygous positions.
  • The method provides quantitative results for confident haplotype calls.
  • This technique offers a significant advancement over existing gene phasing tools for clinical applications.