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

Genomics02:02

Genomics

35.2K
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...
35.2K
Pedigree Analysis01:35

Pedigree Analysis

82.0K
Overview
82.0K
Next-generation Sequencing03:00

Next-generation Sequencing

86.1K
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....
86.1K
Incomplete Dominance01:43

Incomplete Dominance

20.3K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
20.3K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.0K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.0K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

32.8K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
32.8K

You might also read

Related Articles

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

Sort by
Same author

Automated AI-Based Aortic Measurements From Attenuation Correction CT as an Adjunctive Cardiovascular Risk Biomarker: An International Multicenter Study.

Circulation. Cardiovascular imaging·2026
Same author

Improved Performance of Transthyretin Cardiac Amyloidosis Score by Addition of High-Sensitivity Troponin I: The SCAN-MP Study.

JACC. Heart failure·2026
Same author

The Clinical Pathway Initiative: Identifying role relevant competencies in genomic pathways.

Journal of genetic counseling·2026
Same author

Site-Directed Modification of mRNA with Functionalized Platinum(IV)-Ammines.

JACS Au·2026
Same author

Parametric Cardiac Imaging with <sup>18</sup>F-Flutemetamol PET to Evaluate the Impact of Tafamidis in Patients with Transthyretin Cardiac Amyloidosis.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine·2026
Same author

Microvascular dysfunction in patients with transthyretin cardiac amyloidosis evaluated by 13N-ammonia positron emission tomography-computed tomography: is it an early marker of the disease?

Diagnostic and interventional radiology (Ankara, Turkey)·2026

Related Experiment Video

Updated: May 9, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K

Mainstreaming genomics in paediatrics.

Danielle Bogue1, Charlotte Douglas2, Edward Miller3

  • 1National Genomics Education Programme, NHS England, Birmingham, UK danielle.bogue@nhs.net.

Archives of Disease in Childhood. Education and Practice Edition
|April 28, 2025
PubMed
Summary
This summary is machine-generated.

Genomic testing offers significant potential for diagnosing and treating rare inherited diseases in children. Integrating these advanced genomic technologies into pediatric care requires addressing workforce training and infrastructure challenges for improved child health outcomes.

Keywords:
Child HealthGeneticsPaediatricsTechnology

More Related Videos

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

3.0K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.1K

Related Experiment Videos

Last Updated: May 9, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K
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

3.0K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.1K

Area of Science:

  • Genetics and Genomics
  • Pediatric Medicine
  • Rare Diseases

Background:

  • Approximately 80% of rare diseases have an inherited basis, with 75% affecting children.
  • Genomic technologies, including whole genome sequencing, are crucial for diagnosing and treating rare pediatric conditions.
  • Early genomic screening can enable timely interventions, preventing health deterioration in children.

Purpose of the Study:

  • To explore the integration of genomic testing into pediatric care.
  • To identify challenges and complexities in mainstreaming genomic technologies within the National Health Service (NHS).
  • To propose strategies for supporting the pediatric workforce in adopting genomics.

Main Methods:

  • Review of current frameworks for genomic testing in pediatrics.
  • Analysis of educational and training resources for genomic knowledge.
  • Development of future strategies for clinical integration.

Main Results:

  • Genomic testing holds immense potential for diagnosing and treating rare pediatric diseases.
  • Significant challenges exist in integrating genomics into clinical practice, including workforce adaptation and infrastructure navigation.
  • The study outlines frameworks, training, and strategies to embed genomics in pediatric care.

Conclusions:

  • The application of genomic technologies in pediatric care is essential for improving outcomes in rare diseases.
  • Overcoming implementation challenges is key to realizing the full benefits of genomics in children's health.
  • Supporting the pediatric workforce through education and resources is vital for successful genomic integration.