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

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.
Sanger Sequencing01:57

Sanger Sequencing

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...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
RNA-seq03:21

RNA-seq

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 microarray-based...

You might also read

Related Articles

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

Sort by
Same author

Yield of Family Screening in Arrhythmogenic Right Ventricular Cardiomyopathy Without a Validated Genetic Cause.

Circulation. Arrhythmia and electrophysiology·2026
Same author

Evaluation of the Diagnostic Yield of Exome-Based Panels for Congenital Heart Defects in Different Clinical Settings.

Circulation. Genomic and precision medicine·2026
Same author

Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Metabolomics : Official journal of the Metabolomic Society·2026
Same author

Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.

Journal of cardiovascular translational research·2026
Same author

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.

Frontiers in immunology·2026
Same author

Digital genetic counseling services for cascade cardiogenetic testing.

Journal of genetic counseling·2026

Related Experiment Video

Updated: May 12, 2026

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

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

Birgit Sikkema-Raddatz1, Lennart F Johansson, Eddy N de Boer

  • 1Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands. b.sikkema01@umcg.nl

Human Mutation
|April 10, 2013
PubMed
Summary

Targeted next-generation sequencing (NGS) matches Sanger sequencing (SS) quality for hereditary cardiomyopathy gene analysis. This validated targeted NGS approach can now serve as a reliable standalone diagnostic test for genetic mutations.

More Related Videos

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Related Experiment Videos

Last Updated: May 12, 2026

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

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiovascular Diseases

Background:

  • Exome sequencing offers broad gene analysis but lacks diagnostic reliability due to incomplete exon coverage.
  • Sanger sequencing (SS) remains a diagnostic standard, but is limited in throughput.
  • Targeted next-generation sequencing (NGS) presents a potential solution to improve diagnostic accuracy and efficiency.

Purpose of the Study:

  • To evaluate the sensitivity and specificity of targeted NGS compared to SS for hereditary cardiomyopathy gene analysis.
  • To determine if targeted NGS can be reliably implemented as a standalone diagnostic test.

Main Methods:

  • Developed a targeted enrichment kit for 48 hereditary cardiomyopathy genes.
  • Sequenced 84 individuals using Illumina MiSeq with 151 bp paired-end reads.
  • Assessed coverage quality (≥30 reads/nucleotide) and variant identification, confirming results with SS.

Main Results:

  • Achieved 99% coverage of targeted exons with ≥30 reads/nucleotide.
  • Identified approximately 21,000 variants, with 168 confirmed by SS, including small deletions and insertions.
  • Demonstrated near 100% reproducibility in repeat analyses.

Conclusions:

  • Targeted NGS achieves diagnostic quality comparable to SS for hereditary cardiomyopathies.
  • This validated targeted NGS method is suitable for reliable standalone clinical diagnostics.