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

You might also read

Related Articles

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

Sort by

Same author

Verification of the value of optimization of the medication-related clinical decision support system in China, a hospital-based study.

JAMIA open·2026

Same author

The Barrier-Microbiota-Inflammation Axis in Colorectal Cancer: Mechanisms and Emerging Diagnostic & Therapeutic Strategies.

Cancers·2026

Same author

Akebia saponin D attenuates ulcerative colitis via targeting EGFR and remodeling gut microbiota homeostasis.

Phytomedicine : international journal of phytotherapy and phytopharmacology·2026

Same author

A 3D Bioprinted dECM/CSCA/SA/NC Hybrid Scaffold for Myocardial Infarction Healing.

Applied biochemistry and biotechnology·2026

Same author

Biomacromolecule driven ex vivo expansion of hematopoietic stem cells: Molecular mechanisms and engineering strategies.

International journal of biological macromolecules·2025

Same author

A 3D Bioprinted PDA/CSCA/PAM Hybrid Hydrogel Patch for Myocardial Infarction Healing.

Biotechnology journal·2025

Same journal

K-attention: a biologically informed attention operator for data-efficient sequence-based omics modeling.

Briefings in bioinformatics·2026

Same journal

Accurate prediction of asparagine deamidation in biologics using advanced machine learning models.

Briefings in bioinformatics·2026

Same journal

scImmuneCo: a compendium of cell-type-specific functional modules for decoding immune responses from single-cell RNA-seq data.

Briefings in bioinformatics·2026

Same journal

scGenoByte: a GenoByte embedding transformer with biological priors for cell type annotation.

Briefings in bioinformatics·2026

Same journal

FerroScore: a statistical approach for quantifying tumor-related ferroptosis based on omics data.

Briefings in bioinformatics·2026

Same journal

METEOR: a data-adaptive Mendelian randomization method for powerful detection of shared and specific exposures underlying multiple outcomes.

Briefings in bioinformatics·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jul 20, 2025

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

DELFMUT: duplex sequencing-oriented depth estimation model for stable detection of low-frequency mutations.

Guiying Wu¹, Mengmeng Song¹, Ke Wang^1,2

¹Geneplus-Beijing Institute, Beijing 102206, P. R. China.

Briefings in Bioinformatics

|August 4, 2023

Summary

This summary is machine-generated.

Determining optimal parameters for duplex sequencing is crucial for detecting low-frequency mutations. A new model, DELFMUT, helps set DNA input and sequencing depth for stable mutation detection.

Keywords:

duplex sequencing low-frequency mutations sequencing depth estimation zero-truncated negative binomial distribution

More Related Videos

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

Related Experiment Videos

Last Updated: Jul 20, 2025

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions

Published on: September 25, 2018

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations

Published on: March 29, 2017

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Duplex sequencing is vital for detecting low-frequency mutations in circulating tumor DNA.
Optimizing experimental parameters like sequencing depth remains a challenge for stable mutation detection.

Purpose of the Study:

To develop a model for determining optimal experimental parameters in duplex sequencing.
To ensure the stable detection of low-frequency mutations using duplex sequencing technology.

Main Methods:

Proposed the Depth Estimation model for stable detection of Low-Frequency MUTations (DELFMUT).
Modeled template-read relationships using the zero-truncated negative binomial distribution.
Validated the model with real duplex sequencing data.

Main Results:

DELFMUT effectively models quantitative relationships between templates and reads.
The model was verified using actual duplex sequencing data.
DELFMUT can recommend DNA input and sequencing depth combinations for stable mutation detection.

Conclusions:

DELFMUT provides a valuable tool for guiding experimental parameter settings in duplex sequencing.
The model enhances the reliability of low-frequency mutation detection in circulating tumor DNA.
This approach has significant implications for cancer research and diagnostics.