Bioinformatics analysis methods for cell-free DNA

Abstract

As a kind of novel non-invasive marker for molecular detection, cell-free DNA (cfDNA) has potential value for the early diagnosis of diseases, prognosis assessment, and efficacy monitoring. The constant developments in molecular biology detection technologies have led to an increase in clinical studies on the use of cfDNA detection methods for patients, and many gratifying outcomes have been achieved. In this review, the contributions of bioinformatics tools to the study of cfDNA are well discussed. The focus of the review is on cfDNA identification signals, cfDNA identification methods, and the relationship of cfDNA with human diseases such as hepatic cancer, lung cancer, end-stage kidney disease, and ischemic stroke. The research significance and existing problems of using cfDNA as a biomarker for diseases are also discussed.

Keywords: Cell-free DNA; Identification of cfDNA; Methylation; cfDNA related diseases.