ABSTRACT

Circulating cell-free DNA (cfDNA) and cell-free RNA (cfRNA) in bodily fluids can provide a rich source of information with clinical value in diag- nosis, prognosis, and treatment monitoring of various diseases. For the last three-decades, the development of affordable massively parallel sequencing and highly sensitive PCR-based techniques has allowed us to produce a remarkable amount of cfDNA and cfRNA data, advancing our understanding of basic cfDNA and cfRNA biology and elucidating its clinical utilities. In this book chapter, we will discuss the key technologies for the analysis of cfDNA and cfRNA and their clinical applications. Methods to purify cfDNA and cfRNA from human plasma and to analyze their aberrations are detailed. We will summarize an overview of clinical applications of cfDNA and cfRNA in prenatal diagnostic testing, oncology, transplantation, microbial analysis, autoimmune disorders, and Alzheimer’s disease.