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Updated: Sep 19, 2025

DNA Methylation: Bisulphite Modification and Analysis

DNA Methylation: Bisulphite Modification and Analysis

Published on: October 21, 2011

A DNA alteration and methylation co-detection method for clinical purpose.

Jiyan Yu^1,2, Chunhe Yang^1,2, Xintao Zhu^1,2

¹Amoy Diagnostics Co., Ltd, 39 Dingshan Road, Haicang District, Xiamen, China.

EMBO Molecular Medicine

|June 4, 2025

Summary

This summary is machine-generated.

This study presents a new method for simultaneously analyzing DNA mutations and methylation, improving cell-free DNA analysis. This approach enhances circulating tumor DNA detection and reveals cancer gene repair mechanisms.

Keywords:

Co-detection Companion Diagnostics Methylation Minimal Residual Disease Mutation

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Published on: June 16, 2017

Methyl-binding DNA capture Sequencing for Patient Tissues

Methyl-binding DNA capture Sequencing for Patient Tissues

Published on: October 31, 2016

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Last Updated: Sep 19, 2025

DNA Methylation: Bisulphite Modification and Analysis

DNA Methylation: Bisulphite Modification and Analysis

Published on: October 21, 2011

Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients

Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients

Published on: June 16, 2017

Methyl-binding DNA capture Sequencing for Patient Tissues

Methyl-binding DNA capture Sequencing for Patient Tissues

Published on: October 31, 2016

Area of Science:

Molecular Biology
Genomics
Epigenetics

Background:

Current genomic and methylation analyses require separate assays, complicating workflows and limiting low-input sample use.
Cell-free DNA (cfDNA) analysis is challenged by low sample input and the need for multi-omic data.

Purpose of the Study:

To develop a streamlined assay for simultaneous mutation and methylation profiling.
To evaluate the performance of this integrated assay in various clinical contexts, including cfDNA analysis.

Main Methods:

Developed a novel method using mutation-protective strand synthesis with modified deoxycytidine triphosphates.
Validated the approach using whole-genome sequencing of cell lines and targeted sequencing of clinical samples.
Implemented the assay on a quantitative PCR (qPCR) platform.

Main Results:

Demonstrated high concordance with standard DNA sequencing and methylation assays.
Achieved a modest ~12% improvement in circulating tumor DNA (ctDNA) detection in lung cancer patients.
Revealed links between homologous recombination repair (HRR) gene function and homologous recombination deficiency (HRD) in gynecologic cancers.
Showcased high performance on qPCR with a 0.5% limit of detection.

Conclusions:

The integrated mutation and methylation profiling approach simplifies clinical workflows and enhances cfDNA analysis.
This method shows promise for improved ctDNA detection and understanding cancer biology.
The adaptability and performance of this assay suggest significant potential for advancing clinical diagnostics.