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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
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Detection of Circulating Tumor DNA in Plasma Using Targeted Sequencing
Xue Sun1, Xingyu Liu1, Ying Zhao1
1Genesis, Beijing, China.
Methods in Molecular Biology (Clifton, N.J.)
|July 14, 2023
Summary
Cell-free DNA (cfDNA) analysis, particularly circulating tumor DNA (ctDNA), offers promising biomarkers for early cancer diagnosis and treatment monitoring. This chapter details the workflow and bioinformatics for targeted cfDNA sequencing.
Area of Science:
- Molecular Biology
- Genomics
- Biochemistry
Background:
- Cell-free DNA (cfDNA) comprises degraded extracellular DNA fragments.
- Circulating tumor DNA (ctDNA), a subset of cfDNA, originates from tumor cells and harbors genetic and epigenetic alterations.
- ctDNA analysis holds significant potential for clinical applications in oncology.
Purpose of the Study:
- To introduce the experimental workflow for targeted sequencing of cfDNA.
- To outline the bioinformatic pipeline for analyzing cfDNA data.
- To highlight the clinical utility of ctDNA biomarkers.
Main Methods:
- Targeted sequencing of cfDNA.
- Experimental workflow design.
- Bioinformatic pipeline development.
Main Results:
- Identification of cfDNA as a source of biomarkers.
- Characterization of variations within ctDNA (mutation, deletion, insertion, etc.).
- Demonstration of ctDNA's potential in early diagnosis, recurrence monitoring, and personalized medicine.
Conclusions:
- Targeted sequencing of cfDNA provides a powerful approach for biomarker discovery.
- ctDNA analysis is crucial for advancing precision oncology.
- The described methods facilitate the clinical application of cfDNA-based diagnostics.

