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

Next-generation Sequencing03:00

Next-generation Sequencing

99.4K
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....
99.4K
Sanger Sequencing01:57

Sanger Sequencing

775.8K
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...
775.8K
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

13.2K
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...
13.2K

You might also read

Related Articles

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

Sort by
Same author

Mendelian Randomization Suggests a Causal Link Between Glycemic Traits and Thoracic Aortic Structures and Diseases.

JACC. Basic to translational science·2025
Same author

Reduced Expression of MTSS1 Increases Sarcomere Number and Improves Contractility in Select Forms of Monogenic DCM.

JACC. Basic to translational science·2025
Same author

Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.

Frontiers in cardiovascular medicine·2025
Same author

Epistasis regulates genetic control of cardiac hypertrophy.

Nature cardiovascular research·2025
Same author

The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans.

HGG advances·2025
Same author

Combining genetic proxies of drug targets and time-to-event analyses from longitudinal observational data to identify target patient populations.

BMC cardiovascular disorders·2025

Related Experiment Video

Updated: Feb 25, 2026

Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow
10:44

Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow

Published on: August 15, 2025

1.2K

A primer to clinical genome sequencing.

James R Priest1

  • 1Pediatric Cardiology, Stanford University School of Medicine, Lucile Packard Children's Hospital, Stanford, California, USA.

Current Opinion in Pediatrics
|August 9, 2017
PubMed
Summary

Clinical genome sequencing offers comprehensive genetic insights for diagnosing rare diseases and guiding cancer pharmacogenomics. This review bridges the knowledge gap for non-genetic specialists on its interpretation and application.

More Related Videos

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.3K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.9K

Related Experiment Videos

Last Updated: Feb 25, 2026

Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow
10:44

Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow

Published on: August 15, 2025

1.2K
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

12.3K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.9K

Area of Science:

  • Genomic Medicine
  • Clinical Diagnostics
  • Translational Genomics

Background:

  • Genome sequencing is increasingly utilized as a clinical diagnostic tool.
  • A knowledge and translation gap exists for non-genetic specialists regarding clinical genome sequencing processes.
  • Understanding genome sequencing is crucial for its effective clinical application.

Purpose of the Study:

  • To provide a primer on contemporary clinical genome sequencing for non-genetic specialists.
  • To describe the Human Genome Project, current sequencing techniques, and applications.
  • To outline the limitations of current genome sequencing technology and future advancements.

Main Methods:

  • Review of current literature and clinical practices in genome sequencing.
  • Explanation of genome sequencing methodology, including comparison to reference sequences.
  • Discussion of applications in diagnostics, cancer pharmacogenomics, and complex cases.

Main Results:

  • Clinical genome sequencing compares an individual's genome to a reference sequence.
  • Applications include timely diagnostics, cancer pharmacogenomics, and undiagnosed genetic conditions.
  • Current limitations include a shortage of qualified interpreters and detection of all genetic variations.

Conclusions:

  • Genome sequencing provides more information than gene-panel or exome sequencing.
  • It has the potential to replace targeted genetic testing in many clinical scenarios.
  • Addressing interpretation challenges is key to broader clinical adoption.