In Trends in genetics : TIG
Liquid biopsies (LBs), particularly using circulating tumor DNA (ctDNA), are expected to revolutionize precision oncology and blood-based cancer screening. Recent technological improvements, in combination with the ever-growing understanding of cell-free DNA (cfDNA) biology, are enabling the detection of tumor-specific changes with extremely high resolution and new analysis concepts beyond genetic alterations, including methylomics, fragmentomics, and nucleosomics. The interrogation of a large number of markers and the high complexity of data render traditional correlation methods insufficient. In this regard, machine learning (ML) algorithms are increasingly being used to decipher disease- and tissue-specific signals from cfDNA. Here, we review recent insights into biological ctDNA features and how these are incorporated into sophisticated ML applications.
Moser Tina, Kühberger Stefan, Lazzeri Isaac, Vlachos Georgios, Heitzer Ellen
2023-Feb-13
cell-free DNA (cfDNA), circulating tumor DNA (ctDNA), fragmentomics, machine learning (ML), methylomics, nucleosomics
