Bioinformatics analysis for cell-free tumor DNA sequencing data

Abstract

As a major biomarker of liquid biopsy, cell-free tumor DNA (ctDNA), which can be extracted from blood, urine, or other circulating liquids, is able to provide comprehensive genetic information of tumor and better overcome the tumor heterogeneity problem comparing to tissue biopsy. Developed in recent years, next-generation sequencing (NGS) is a widely used technology for analyzing ctDNA. Although the technologies of processing ctDNA samples are mature, the task to detect low mutated allele frequency (MAF) variations from noisy sequencing data remains challenging. In this chapter, the authors will first explain the difficulties of analyzing ctDNA sequencing data, review related technologies, and then present some novel bioinformatics methods for analyzing ctDNA NGS data in better ways.