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

87.0K
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....
87.0K
Genetic Screens02:46

Genetic Screens

4.8K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.3K
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...
12.3K
Pedigree Analysis01:35

Pedigree Analysis

83.7K
Overview
83.7K

You might also read

Related Articles

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

Sort by
Same author

A comparative study of SNPscan/CNVplex assay and routine PCR in genetic analysis of thalassemia.

Frontiers in genetics·2026
Same author

Overexpression of EZH2 is associated with clinicopathological parameters and poor prognosis in gliomas.

Oncology letters·2026
Same author

A transformer and large-kernel convolution-based detection model for Red Turpentine Beetle infestation in pine trees.

Scientific reports·2026
Same author

Engineered iMSCs delivering wild-type IL-2 achieve dose-sparing tumor control via CD25-dependent CD8<sup>+</sup> T-cell activation.

BMC medicine·2026
Same author

Kyphoscoliotic Ehlers-Danlos syndrome due to a novel homozygous PLOD1 variant: severe vascular involvement and molecular diagnosis.

BMC medical genomics·2026
Same author

Identification, diversity analysis and control of the pathogens causing Ceratocystis wilt of Camphora officinarum in Southern China.

Pest management science·2026

Related Experiment Video

Updated: May 26, 2025

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

Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.

Hongyun Zhang1, Jun He2, Yanling Teng1

  • 1Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China.

QJM : Monthly Journal of the Association of Physicians
|February 21, 2025
PubMed
Summary

This new noninvasive prenatal testing for dominant single-gene disorders (NIPT-dSGD) accurately detects de novo and inherited variants, even without ultrasound abnormalities. This advance aids early pregnancy management for genetic conditions.

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

33.4K
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

25.8K

Related Experiment Videos

Last Updated: May 26, 2025

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
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

33.4K
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

25.8K

Area of Science:

  • Genetics
  • Molecular Biology
  • Prenatal Diagnostics

Background:

  • Current noninvasive prenatal testing (NIPT) primarily detects chromosomal abnormalities, not dominant single-gene disorders (dSGDs).
  • There is a need for prenatal diagnostic methods capable of identifying dSGDs noninvasively.

Purpose of the Study:

  • To evaluate the clinical utility of a novel plasma cell-free DNA (cfDNA) and targeted next-generation sequencing approach for NIPT of dSGDs (NIPT-dSGD).
  • To specifically assess the NIPT-dSGD method's effectiveness for neurodevelopmental disorders (NDDs).

Main Methods:

  • Developed NIPT-dSGD targeting 34 genes (25 for NDDs, 9 for other syndromic disorders).
  • Validated the NIPT-dSGD method retrospectively, then applied it to a prospective cohort of 567 pregnant women.
  • Compared NIPT-dSGD results with invasive prenatal/postnatal genetic diagnoses (whole-exome sequencing, Sanger sequencing).

Main Results:

  • Analyzed 535 samples; 11 (2.1%) revealed pathogenic/likely pathogenic variants in targeted genes.
  • Variants were either paternally inherited (3/11) or de novo (8/11).
  • Achieved 100% sensitivity and 100% specificity, with no false positives or negatives; detected variants in NDD genes even with normal ultrasounds.

Conclusions:

  • NIPT-dSGD accurately identifies de novo and paternally inherited variants in dominant genes.
  • This method is effective even when genetic variants do not cause observable ultrasound abnormalities.
  • NIPT-dSGD can significantly improve pregnancy management for families at risk of dSGDs.