Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Next-generation Sequencing

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

Germline CDK12 variants in aggressive prostate cancer.

Cancer discovery·2026

Same author

3D pathology-guided microdissection.

Nature methods·2026

Same author

Conserved and context-dependent changes in pathogen and host cell gene expression during Staphylococcus aureus intracellular infection.

BMC microbiology·2026

Same author

<i>In vitro</i> susceptibility of <i>Stenotrophomonas maltophilia</i> and other carbapenem non-susceptible Gram-negative rods in the Pacific Northwest to cefiderocol and aztreonam-avibactam.

JAC-antimicrobial resistance·2026

Same author

Discovery and Cryo-EM-Guided Development of a Neuropilin-2-Binding Aptamer for Receptor Antagonism.

Journal of the American Chemical Society·2026

Same author

The Unified Human Virome Database: A toolkit for expanded human virome analysis.

bioRxiv : the preprint server for biology·2026

Same journal

Comparison of Information-Dependent Acquisition and Sequential Window Acquisition of All Theoretical Mass Spectra for Untargeted Drug Testing on a Linear Ion Trap-Pulsing Quadrupole-Time of Flight Mass Spectrometer.

Clinical chemistry·2026

Same journal

Patterns of One-Year Change in HbA1c and Continuous Glucose Monitoring (CGM) Metrics in Older Adults with Type 2 Diabetes.

Clinical chemistry·2026

Same journal

TSH Pediatric Reference Intervals: Lack of CALIPER Applicability to US-Based Populations.

Clinical chemistry·2026

Same journal

Rapid Detection of Hemoglobinopathy Variants Using One-Step Library Preparation and Nanopore Sequencing.

Clinical chemistry·2026

Same journal

Editor's Note: Circulating Proteolytic Products of Carboxypeptidase N for Early Detection of Breast Cancer.

Clinical chemistry·2026

Same journal

In Reply to Reflexing NT-proBNP for sFlt-1/PlGF Ratios That Fall into the Measurement Uncertainty for Preeclampsia Risk Classification.

Clinical chemistry·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Apr 27, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Microsatellite instability detection by next generation sequencing.

Stephen J Salipante¹, Sheena M Scroggins¹, Heather L Hampel²

¹Department of Laboratory Medicine, University of Washington, Seattle WA;

Clinical Chemistry

|July 3, 2014

Summary

This summary is machine-generated.

We developed mSINGS, a novel method using next-generation sequencing (NGS) to accurately detect microsatellite instability (MSI) in cancer. This approach offers a sensitive and specific alternative to traditional PCR-based methods.

More Related Videos

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

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

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: Apr 27, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

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

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:

Genomics
Cancer Diagnostics
Bioinformatics

Background:

Microsatellite instability (MSI) is a key phenotype for cancer diagnosis and prognosis.
Current methods for detecting MSI from next-generation sequencing (NGS) data are not well-developed.

Purpose of the Study:

To develop and validate a novel NGS-based approach for detecting MSI.
To evaluate the performance of this method across various targeted gene capture panel sizes.

Main Methods:

Developed mSINGS, an approach to detect MSI phenotype using NGS data.
Evaluated mononucleotide microsatellite loci incidentally sequenced after targeted gene enrichment.
Quantified repeat variations in microsatellite loci compared to normal controls to determine instability.

Main Results:

Tested on 324 samples using targeted gene capture assays (0.85-Mb to 44-Mb).
Achieved high diagnostic sensitivity (96.4%–100%) and specificity (97.2%–100%) compared to MSI-PCR.
Demonstrated a strong correlation between NGS-derived unstable marker fraction and MSI-PCR results.

Conclusions:

NGS data can accurately detect MSI, even with limited capture designs.
The mSINGS approach provides advantages over existing PCR-based methods for MSI detection.