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

11.7K
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...
11.7K
Sanger Sequencing01:57

Sanger Sequencing

773.0K
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...
773.0K
Next-generation Sequencing03:00

Next-generation Sequencing

97.7K
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....
97.7K
Genomics02:02

Genomics

39.6K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
39.6K
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

12.6K
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...
12.6K

You might also read

Related Articles

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

Sort by
Same author

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Molecular metabolism·2026
Same author

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

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

A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.

Human genetics·2026
Same author

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

Orphanet journal of rare diseases·2026
Same author

Peroxisomal interactome mapping enables network-based modelling of function and disease.

Life science alliance·2026
Same author

Expanding the ABCA2-associated neurodevelopmental phenotype.

HGG advances·2026

Related Experiment Video

Updated: Jan 12, 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

12.5K

Exome Sequencing in Children.

Elisa A Mahler1, Jessika Johannsen, Konstantinos Tsiakas

  • 1*Joint last authors; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf; Department of Pediatrics, University Medical Center Hamburg-Eppendorf; Institute of Human Genetics, Klinikum Rechts der Isar, TUM, Munich; Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen; Institute of Human Genetics, Helmholtz Center Munich; Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE).

Deutsches Arzteblatt International
|May 7, 2019
PubMed
Summary

Whole exome sequencing (WES) is a powerful diagnostic tool for identifying causes of developmental disorders in children. Trio WES, involving parents, significantly increases diagnostic yield for unclear neurological conditions.

More Related Videos

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

9.0K
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

26.3K

Related Experiment Videos

Last Updated: Jan 12, 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

12.5K
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

9.0K
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

26.3K

Area of Science:

  • Genetics
  • Pediatric Neurology
  • Medical Diagnostics

Background:

  • Global developmental disorders affect ~1% of children in developed countries.
  • Causes are diverse, often unidentified in ~50% of cases.
  • Whole exome sequencing (WES) is a key diagnostic method for genetic disorders.

Purpose of the Study:

  • To evaluate the diagnostic utility of trio WES in children with unexplained developmental disturbances and nonspecific neurological manifestations.
  • To determine the optimal use of WES in routine pediatric neurology practice.

Main Methods:

  • Conducted an interdisciplinary study involving 50 children with unexplained developmental disorders.
  • Performed standardized clinical phenotyping and systematic genetic analysis using trio WES (patient and parents).

Main Results:

  • Identified the cause in 21 children (42%) through mutations in known disease-associated genes.
  • Detected potentially etiological changes in candidate genes in 22 children (44%).
  • Achieved a high detection rate of at least 42%.

Conclusions:

  • Whole exome sequencing (WES) is an effective differential diagnostic tool in pediatric neurology.
  • Trio WES, combined with interdisciplinary collaboration and detailed phenotyping, maximizes diagnostic yield.
  • Meticulous evaluation of all gene variants is crucial for accurate diagnosis.