Detection of Circulating Tumor DNA in Plasma Using Targeted Sequencing

Abstract

Cell-free DNA (cfDNA) is the degradation product of extracellular DNA. Circulating tumor DNA (ctDNA), as a fraction of cfDNA, comes from tumor cells and contains variations, including mutation, deletion, insertion, rearrangement, copy number variation, and methylation. Therefore, biomarkers identified in ctDNA show promising clinical applications in early diagnosis, recurrence monitoring, and conducting individualized treatment. In this chapter, we introduce experimental workflow and bioinformatic pipeline of targeted sequencing of cfDNA.

Keywords: Cell-free DNA; Circulating tumor DNA; Early diagnosis; Individualized treatment; Targeted sequencing.