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

101.0K
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....
101.0K
RNA-seq03:21

RNA-seq

12.5K
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...
12.5K

You might also read

Related Articles

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

Sort by
Same author

Towards responsible genome-wide screening: normative and stakeholder considerations.

European journal of human genetics : EJHG·2026
Same author

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

Nature communications·2026
Same author

Identification of a novel hypomorphic variant in CYBB underlying an adult presentation of X-linked recessive Mendelian susceptibility to mycobacterial disease.

Clinical immunology (Orlando, Fla.)·2026
Same author

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.

Genome medicine·2026
Same author

[Unsolicited findings in genomic testing: what do we tell the patient?]

Nederlands tijdschrift voor geneeskunde·2025
Same author

The first population scale compendium of complete mitochondrial genomes from Flanders, Belgium.

Forensic science international. Genetics·2025
Same journal

When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants.

European journal of human genetics : EJHG·2026
Same journal

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

European journal of human genetics : EJHG·2026
Same journal

Parent and professional experiences of a clinical trial of prenatal and postnatal stem cell therapy for severe osteogenesis imperfecta.

European journal of human genetics : EJHG·2026
Same journal

Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.

European journal of human genetics : EJHG·2026
Same journal

Australian parents' perspectives on extended genomic screening: what information to return and when?

European journal of human genetics : EJHG·2026
Same journal

Perspectives on phenotype in genetic testing for early-onset atrial fibrillation.

European journal of human genetics : EJHG·2026
See all related articles

Related Experiment Video

Updated: Mar 31, 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

35.0K

Guidelines for diagnostic next-generation sequencing.

Gert Matthijs1, Erika Souche1, Mariëlle Alders2

  • 1Center for Human Genetics, KU Leuven, Gasthuisberg, Laboratory for Molecular Diagnosis, Leuven, Belgium.

European Journal of Human Genetics : EJHG
|October 29, 2015
PubMed
Summary
This summary is machine-generated.

New guidelines for evaluating next-generation sequencing (NGS) diagnostic tests in genetic disorders have been developed. These guidelines, including a novel rating system, aim to harmonize and ensure quality in European genetic diagnostics.

More Related Videos

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

12.4K
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

25.2K

Related Experiment Videos

Last Updated: Mar 31, 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

35.0K
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

12.4K
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

25.2K

Area of Science:

  • Human Genetics
  • Molecular Diagnostics

Background:

  • Genetic disorder diagnosis relies heavily on advanced molecular techniques.
  • Standardization is crucial for reliable and reproducible genetic testing across Europe.

Framework:

  • Guidelines for evaluating and validating next-generation sequencing (NGS) applications.
  • Developed by laboratory and clinical geneticists, bioinformaticians, and stakeholders.
  • Incorporates existing guidelines and introduces novel insights.

Implementation:

  • Provides practical examples for laboratory implementation of NGS.
  • Addresses accreditation requirements for genetic diagnostic services.
  • Includes a new 'rating system' for NGS-based diagnostic tests.

Implications:

  • Aims to harmonize and assure the quality of NGS diagnostics in Europe.
  • Applauded by the genetic diagnostic community for its value.
  • Facilitates consistent and high-quality genetic disorder diagnosis.