fig4
Figure 4. cfDNA carries (epi)genetic and fragmentation signatures. A catalog of genetic and non-genetic signatures that might be used for disease detection. The genetic signatures, including copy number changes, single nucleotide variations, and rearrangements, and epigenetic signatures, mainly methylation, are vastly investigated and used in clinical applications. The non-genetic changes that encompass several dimensions of characteristics resulted from cfDNA release mechanisms are under exploration.