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Targeted DNA Methylation Analysis by Next-generation Sequencing
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Cell-Free DNA Methylation Profiling Analysis-Technologies and Bioinformatics.

Jinyong Huang1, Liang Wang1

  • 1Department of Tumor Biology, H. Lee Moffitt Cancer Center, Tampa, Florida 33612, USA.

Cancers
|November 9, 2019
PubMed
Summary

Liquid biopsies using cell-free DNA (cfDNA) methylation analysis show promise for early cancer detection and origin determination. This review guides selecting methods for cfDNA methylation studies.

Keywords:
DNA methylationbioinformaticcell-free DNAliquid biopsiesnext-generation sequencing

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Area of Science:

  • Biochemistry
  • Genetics
  • Oncology

Background:

  • Circulating nucleic acids, or liquid biopsies, are gaining prominence for non-invasive disease monitoring.
  • Cell-free DNA (cfDNA) analysis offers insights into tumor status, heterogeneity, and treatment response.
  • Aberrant DNA methylation is an early event in cancer pathogenesis and is consistent across samples.

Purpose of the Study:

  • To review technologies for DNA methylation analysis in liquid biopsies.
  • To discuss the feasibility of these technologies for clinical applications.
  • To provide guidance on bioinformatic approaches for cfDNA methylation data.

Main Methods:

  • Review of existing literature on DNA methylation analysis technologies.
  • Assessment of technologies for cfDNA methylation profiling.
  • Overview of bioinformatic tools for sequencing data analysis.

Main Results:

  • DNA methylation patterns in cfDNA reflect their tissue of origin.
  • Systemic analysis of cfDNA methylation is a promising approach for cancer detection.
  • Various technologies exist for DNA methylation analysis, each with specific applications.

Conclusions:

  • cfDNA methylation analysis is a powerful tool for cancer detection and origin determination.
  • Selection of appropriate experimental and computational methods is crucial for successful cfDNA methylation studies.
  • This review provides a framework for researchers in the field of liquid biopsy and epigenetics.