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 Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors11:15

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

25.0K
This manuscript describes clinical protocols for two next-generation sequencing panels. One panel interrogates hematologic malignancies while the other panel targets genes commonly mutated in solid tumors. Molecular classification of driver mutations in human malignancies offers valuable prognostic and predictive...
25.0K
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

17.3K
This manuscript describes a technique for detecting mutations of low frequency in ctDNA, ER-Seq. This method is differentiated by its unique use of two-directional error correction, a special background filter, and efficient molecular acquirement.
17.3K
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies13:24

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

12.2K
An integrated system for targeted next-generation sequencing of oncology specimens is described. This cross-platform system is optimized for low-quality and low-quantity tumor biopsies, accommodates low DNA inputs, includes well-characterized multi-variant controls, and features a novel variant caller that is informed by quantitative pre-analytical quality control measures.
12.2K
A Standardized Liquid Biopsy Preanalytical Protocol for Downstream Circulating-Free DNA Applications05:26

A Standardized Liquid Biopsy Preanalytical Protocol for Downstream Circulating-Free DNA Applications

4.6K
The liquid biopsy has revolutionized our approach to oncology translational studies, with sample collection, quality, and storage being crucial steps for its successful clinical application. Here we describe a standardized and validated protocol for downstream circulating-free DNA applications that can be applied in most translational research...
4.6K
Quantification of Colonic Stem Cell Mutations07:53

Quantification of Colonic Stem Cell Mutations

7.0K
We report significant improvements for the reproducible measurement of somatic colonic stem cell mutations after exposure of mice to potential DNA damaging...
7.0K
Generation of Patient-Derived Podocytes from Skin Biopsies08:52

Generation of Patient-Derived Podocytes from Skin Biopsies

3.0K
This manuscript describes a two-step protocol to generate patient-specific podocytes from dermal fibroblasts via episomal reprogramming into human-induced pluripotent stem cells (hiPSCs) and subsequent differentiation into...
3.0K

You might also read

Related Articles

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

Sort by
Same author

Improving neoadjuvant and perioperative therapy in non-small-cell lung cancer.

Nature reviews. Clinical oncology·2026
Same author

Prognostic dynamics of pathological complete response and ctDNA clearance after neoadjuvant/perioperative immunotherapy in cancer: a reconstructed individual patient analysis.

Journal of the National Cancer Institute·2026
Same author

Clinical Characteristics and Survival Outcomes in Patients With Small Cell Lung Cancer in Spain: An Analysis of the Thoracic Tumor Registry (2016-2025).

Archivos de bronconeumologia·2026
Same author

Machine Learning Assessment of Pathologic Response in Lung Cancer Resections After Neoadjuvant Therapy-IASLC MPR Project.

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer·2026
Same author

Characteristics and clinical outcomes of a nationwide cohort of patients with small cell lung cancer following first-line treatment: Real-world evidence.

Lung cancer (Amsterdam, Netherlands)·2026
Same author

International Consensus on Severe Lung Cancer-The Second Edition.

Translational lung cancer research·2026

Related Experiment Video

Updated: Jan 20, 2026

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

25.0K

Next-generation sequencing for tumor mutation quantification using liquid biopsies.

Mariano Provencio1, Clara Pérez-Barrios2,3, Miguel Barquin2

  • 1Medical Oncology Department, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, Spain.

Clinical Chemistry and Laboratory Medicine
|August 31, 2019
PubMed
Summary

Next-generation sequencing (NGS) accurately quantifies mutations in circulating tumor DNA (ctDNA), matching digital PCR (dPCR) results. This robust method enables dynamic genomic surveillance for non-small cell lung cancer (NSCLC) patients in precision medicine.

Keywords:
biomarker testingcfDNActDNAdigital PCR (dPCR)liquid biopsynext-generation sequencing (NGS)non-small cell lung cancer (NSCLC)

More Related Videos

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.3K
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

12.2K

Related Experiment Videos

Last Updated: Jan 20, 2026

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

25.0K
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

17.3K
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

12.2K

Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genomics

Background:

  • Non-small cell lung cancer (NSCLC) management relies on targeted therapies, but molecular profiling after initial treatment progression is infrequent.
  • Circulating tumor DNA (ctDNA) analysis offers non-invasive biomarker testing and treatment response monitoring.
  • Digital PCR (dPCR) is limited in mutation analysis scope, while Next-Generation Sequencing (NGS) allows broader mutation profiling.

Purpose of the Study:

  • To evaluate the concordance between NGS and dPCR for quantifying mutant allele frequencies (MAFs) in ctDNA.
  • To assess the utility of NGS for detecting resistance mutations like p.T790M in NSCLC.
  • To establish NGS as a reliable method for ctDNA analysis in clinical settings.

Main Methods:

  • Analysis of 54 circulating free DNA (cfDNA) samples from 52 NSCLC patients using NGS (Oncomine™ Lung cfDNA Assay) and dPCR.
  • Statistical analysis including Lin's concordance correlation coefficient and Pearson's correlation coefficient to compare MAFs.
  • Assessment of agreement for detecting the p.T790M resistance mutation.

Main Results:

  • Excellent concordance between NGS and dPCR for MAF quantification (ρc = 0.986, r = 0.987).
  • Near-perfect agreement for detecting the p.T790M resistance mutation (K = 0.81).
  • Successful cfDNA sequencing with as low as 10 ng input, demonstrating sensitivity.

Conclusions:

  • NGS provides a robust and highly correlated method for ctDNA quantification compared to dPCR.
  • NGS is suitable for dynamic genomic surveillance in NSCLC patients, supporting precision medicine.
  • The findings validate NGS as a reliable tool for comprehensive molecular profiling of ctDNA.