Cell-free DNA methylation pattern analysis

Cell-free DNA methylation pattern analysis refers to methods by which the methylation profile of circulating, fragmented DNA found in bodily fluids is assessed as a noninvasive biomarker for disease detection, tissue-of-origin identification, and monitoring of biological processes. cfDNA methylation patterns reflect their tissue or cellular origin due to cell-type-specific DNA methylation signatures. Analysis of these patterns is increasingly used for the diagnosis and monitoring of cancers, noninvasive prenatal testing, and in transplantation medicine. Technologies range from bisulfite sequencing and methylation-sensitive enzyme digestion to advanced fragmentomic assays (such as FRAGMA), which can predict methylation from DNA fragmentation profiles[1][2][3][4][5][6]. Although not a biological target amenable to drug interaction, cfDNA methylation profiling is a powerful bioanalytical tool for precision diagnostics. Its main challenges include technical issues such as DNA degradation during sample processing and limited specificity of some assays[4][6].

Other names

cfDNA methylation profilingcfDNA methylome analysiscfDNA fragmentomics-based methylation analysisFRAGMA