cfDNA fragmentomics

Cell-free DNA (cfDNA) refers to nucleic acid fragments released into the extracellular space through apoptosis, necrosis, or active secretion by cells, including cancer cells. cfDNA carries valuable molecular information such as mutations, copy number variations (CNV), methylation patterns, and tissue-of-origin signatures (1). cfDNA fragmentomics represents a cutting-edge liquid biopsy approach for non-invasive cancer detection and medical research. It characterizes the distinctive fragmentation patterns of tumor-derived DNA compared to DNA from other tissues, and has gained increasing attention in recent years (2). this service utilizes whole-genome sequencing (WGS) to analyze fragmentation patterns in blood-derived cfDNA. Key features include Fragment Size Ratio (FSR), Fragment Size Distribution (FSD), End Motif (EDM), Breakpoint Motif (BPM), CNV, SNP, and nucleosome footprints, which reflect chromatin accessibility and gene expression states. These characteristics are closely linked to genomic organization, cell death mechanisms, and epigenetic modifications (3). By distinguishing differences in cfDNA fragmentation patterns and studying their associations with DNA methylation, histone modifications, and chromatin structure, the service infers cancer-related epigenetic alterations. It is suitable for large-scale population screening studies.