Related Experiment Video

Updated: Aug 1, 2025

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

25.9K

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders

María Isabel Alvarez-Mora1,2, Laia Rodríguez-Revenga1,2, Meritxell Jodar1,3

  • 1Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), 08036 Barcelona, Spain.

Genes
|April 28, 2023
PubMed
Summary

Whole exome sequencing (WES) is a powerful tool for diagnosing neurological disorders (ND). This study evaluated WES in 209 cases, achieving a 32% diagnostic rate and highlighting its clinical utility.

Keywords:
Parkinsonataxiaautism spectrum disorderdystoniaepilepsyneurodevelopmental disordersneurological disordersspastic paraplegiawhole exome sequencing

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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

Published on: April 4, 2018

33.9K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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

8.7K

Related Concept Videos

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....
91.7K