Abstract
Nucleic acid fragments found in blood circulation originate mostly from dying cells and carry signs pointing to specific features of the parental cell types. Deciphering these clues may be transformative for numerous research and clinical applications but strongly depends on the development and implementation of robust analytical methods. Remarkable progress has been achieved in the reliable detection of sequence alterations in cell-free DNA while decoding epigenetic information from methylation and fragmentation patterns requires more sophisticated approaches. This review discusses the currently available strategies for detecting and analyzing the epigenetic marks in the liquid biopsies.
Highlights
The pools of circulating nucleic acids found in biological fluids have been extensively studied in recent decades, primarily due to the minimally invasive sampling procedures that promise a number of apparent practical benefits
The detection of somatic mutations in ctDNA may reveal the genomic profile of the tumor, facilitating prognosis, response monitoring, and targeted therapy selection, making mutation-based ctDNA analysis techniques arguably the most widely adopted to date [131]
Beyond the analysis of tumor-specific sequence alterations in ctDNA, epigenetic marks may be favorable for many applications due to their cell-type specificity and patterned nature
Summary
Nucleic acid fragments found in blood circulation originate mostly from dying cells and carry signs pointing to specific features of the parental cell types. Deciphering these clues may be transformative for numerous research and clinical applications but strongly depends on the development and implementation of robust analytical methods. Remarkable progress has been achieved in the reliable detection of sequence alterations in cell-free DNA while decoding epigenetic information from methylation and fragmentation patterns requires more sophisticated approaches. This review discusses the currently available strategies for detecting and analyzing the epigenetic marks in the liquid biopsies
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