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.

You might also read

Related Articles

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

Sort by
Same author

Harmonizing standards and resources for the medical genome.

Nature·2026
Same author

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Nature medicine·2026
Same author

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult Biobanks.

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

Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).

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

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

bioRxiv : the preprint server for biology·2026
Same author

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics.

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

Related Experiment Video

Updated: May 9, 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

ACMG clinical laboratory standards for next-generation sequencing.

Heidi L Rehm1, Sherri J Bale, Pinar Bayrak-Toydemir

  • 1Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA. hrehm@partners.org

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 27, 2013
PubMed
Summary

Next-generation sequencing (NGS) transforms genomic medicine by enabling cost-effective exome and genome analysis for diagnosis and prediction. Professional standards are crucial for validating and ensuring quality in clinical NGS applications.

More Related Videos

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
05:17

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing

Published on: October 10, 2025

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 9, 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

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
05:17

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing

Published on: October 10, 2025

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:

  • Genomic Medicine
  • Clinical Diagnostics
  • Biotechnology

Background:

  • Next-generation sequencing (NGS) technologies have revolutionized clinical laboratories, significantly reducing sequencing costs.
  • Current NGS capabilities allow for comprehensive exome or genome analysis, aiding in diagnosing diverse clinical conditions.

Purpose of the Study:

  • To address the challenges in clinical validation and implementation of evolving NGS technologies.
  • To provide professional standards and guidelines for clinical laboratories using NGS.

Main Methods:

  • Development of professional standards and guidelines by the American College of Medical Genetics and Genomics.
  • Focus on validation of NGS methods and platforms.
  • Emphasis on ongoing quality monitoring of NGS testing.

Main Results:

  • Establishment of guidelines for clinical validation of NGS.
  • Framework for quality assurance in NGS testing.
  • Standards for interpretation and reporting of NGS-derived variants.

Conclusions:

  • NGS technologies are integral to modern genomic medicine, offering diagnostic and predictive power.
  • Standardized guidelines are essential for the reliable and effective clinical use of NGS technologies.
  • The developed standards aim to ensure quality results and support informed clinical decision-making.