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

88.0K
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....
88.0K
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
Sanger Sequencing01:57

Sanger Sequencing

801.2K
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...
801.2K
Sex-linked Disorders01:43

Sex-linked Disorders

95.5K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
95.5K

You might also read

Related Articles

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

Sort by
Same author

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

American journal of human genetics·2025
Same author

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.

medRxiv : the preprint server for health sciences·2025
Same author

Regional and national estimates of children affected by all-cause and COVID-19-associated orphanhood and caregiver death in Brazil, by age and family circumstance: a modeling study.

Lancet regional health. Americas·2025
Same author

Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (<i>RGS9</i>).

Ophthalmic genetics·2025
Same author

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Cerebellum (London, England)·2025
Same author

CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.

Journal of neurology, neurosurgery, and psychiatry·2025

Related Experiment Video

Updated: May 6, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K

Next-generation sequencing in childhood disorders.

Ricardo Parolin Schnekenberg1, Andrea H Németh

  • 1Wellcome Trust Centre for Human Genetics, University of Oxford, , Oxford, UK.

Archives of Disease in Childhood
|October 31, 2013
PubMed
Summary

Next-generation sequencing (NGS) is revolutionizing genetic diagnostics and research, enabling molecular diagnoses for rare diseases. This review covers NGS basics, clinical applications, and implementation challenges for healthcare professionals.

Keywords:
General PaediatricsGeneticsMolecular BiologyPaediatric PracticeTechnology

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

36.1K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

7.9K

Related Experiment Videos

Last Updated: May 6, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

36.1K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

7.9K

Area of Science:

  • Genomics
  • Clinical Diagnostics
  • Medical Genetics

Background:

  • Genetics field rapidly advancing due to new technologies.
  • Next-generation sequencing (NGS) emerges as a transformative tool.
  • NGS has already identified numerous genetic syndromes in research.

Purpose of the Study:

  • To explain the fundamental concepts of next-generation sequencing.
  • To provide examples of NGS's role in clinical research.
  • To examine the challenges associated with integrating NGS into clinical practice.

Main Methods:

  • Review of current literature on next-generation sequencing.
  • Analysis of NGS applications in genetic research and diagnostics.
  • Discussion of practical challenges faced by clinicians and laboratories.

Main Results:

  • NGS has enabled molecular diagnoses for previously untreatable genetic conditions.
  • Hundreds of novel genetic syndromes have been identified using NGS.
  • Clinicians face challenges understanding NGS terminology and implications.

Conclusions:

  • Next-generation sequencing is poised to significantly impact clinical diagnostics across all medical fields.
  • Despite its potential, widespread adoption is hindered by resource limitations and the need for clinician education.
  • Addressing these challenges is crucial for leveraging NGS's full potential in healthcare.