Cell-free DNA (cfDNA) fragments, which make up a large reservoir of data reflecting changes in the host and meta genome in real time, are regularly regenerated in body fluids. This reservoir can be used to tap assays for the diagnosis, prognosis and monitoring of a wide range of diseases, including solid tumours, foetal genetic anomalies, rejected organ transplants, infections and potentially many other conditions. Recent developments in preanalytical and analytical methods, integrated bioinformatics and machine learning algorithms have accelerated the translation of cfDNA research into practical clinical diagnostics. Nevertheless, despite these amazing developments, cfDNA continues to be a very difficult analyte to work with due to its extreme heterogeneity and fluctuation in vivo.
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