![]() ![]() As a major technology in liquid biopsy, cell-free tumor DNA (ctDNA) sequencing is used to detect tumor-derived DNA fragments from plasma, urine and other circulating liquids. For example, liquid biopsy technology ( Esposito et al., 2017), which seeks out cancer-related biomarkers in the circulatory system, can be used to facilitate cancer diagnosis and personalized treatment regimens. Sequencing technologies, especially next-generation sequencing (NGS), have been broadly used in clinical applications in recent years, particularly for noninvasive prenatal testing ( Bianchi et al., 2015) and cancer diagnosis. Even worse, library preparation and sequencing steps always involve errors and can cause inaccurate representations of original nucleic acid sequences. Data can suffer from adapter contamination, base content biases and overrepresented sequences. Quality control and preprocessing of sequencing data are critical to obtaining high-quality and high-confidence variants in downstream data analysis.
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