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

100.5K
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....
100.5K
Intellectual Disability01:29

Intellectual Disability

964
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
964
Sanger Sequencing01:57

Sanger Sequencing

777.3K
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...
777.3K
RNA-seq03:21

RNA-seq

12.4K
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...
12.4K

You might also read

Related Articles

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

Sort by
Same author

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

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

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

medRxiv : the preprint server for health sciences·2026
Same author

High-resolution single-cell mapping of clonal hematopoiesis and structural variation in aplastic anemia.

Nature genetics·2026
Same author

RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.

Nature communications·2026
Same author

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Nature genetics·2026
Same author

Novel <i>PCDH12</i> pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

medRxiv : the preprint server for health sciences·2026
Same journal

A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases.

Journal of pediatric genetics·2024
Same journal

<i>CDKN1C</i> -Related Beckwith-Wiedemann Syndrome: First Patient from India.

Journal of pediatric genetics·2024
Same journal

Understanding the Endocrine and Molecular Signaling Cascade Regulation Pathways in Children with Hypospadias.

Journal of pediatric genetics·2024
Same journal

Novel Case of Prader-Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management.

Journal of pediatric genetics·2024
Same journal

Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on the <i>ATP6V0A4</i> Gene and Review of the Literature on Associated Extrarenal Manifestations.

Journal of pediatric genetics·2024
Same journal

<i>LPL</i> Gene Mutation in Type 1 Familial Triglyceridemia Presenting as Recurrent Pancreatitis and Complicated by COVID19.

Journal of pediatric genetics·2024
See all related articles

Related Experiment Video

Updated: Mar 15, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.6K

Next-Generation Sequencing in Intellectual Disability.

Gemma L Carvill1, Heather C Mefford1

  • 1Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States.

Journal of Pediatric Genetics
|September 13, 2016
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing has greatly advanced the discovery of genes linked to intellectual disability (ID). Future research will focus on whole-genome sequencing and mosaicism to further define the genetic causes of ID.

Keywords:
copy number variationsde novo mutationsintellectual disabilitynext generation sequencing

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

35.0K
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: Mar 15, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.6K
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

35.0K
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:

  • Genetics
  • Neuroscience
  • Medical Research

Background:

  • Intellectual disability (ID) is a complex neurodevelopmental disorder with diverse genetic underpinnings.
  • Identifying the genetic causes of ID is crucial for diagnosis and understanding disease mechanisms.

Purpose of the Study:

  • To review the impact of next-generation sequencing (NGS) on gene discovery in intellectual disability.
  • To discuss current strategies for identifying novel ID-associated genes.
  • To explore future directions in defining the genetic etiology of ID.

Main Methods:

  • Review of gene discovery strategies for syndromic and nonsyndromic ID.
  • Analysis of phenotypic and genetic heterogeneity in ID.
  • Discussion of emerging technologies and approaches in genetic diagnostics for ID.

Main Results:

  • NGS technologies have dramatically increased the number of identified genes associated with ID.
  • Significant genetic and phenotypic heterogeneity exists across ID cases.
  • Diagnostic testing plays a vital role in identifying the genetic basis of ID.

Conclusions:

  • Next-generation sequencing has transformed the landscape of intellectual disability genetics.
  • Understanding genetic heterogeneity is key to diagnosing and treating ID.
  • Whole-genome sequencing and analysis of mosaic variants will be critical for future genetic discoveries in ID.