Fragmentation signatures in cancer patients resemble those of patients with vascular or autoimmune diseases.

ABSTRACT: Multiple case-controlled studies have shown that analyzing fragmentation patterns in plasma cell-free DNA (cfDNA) can distinguish individuals with cancer from healthy controls. However, there have been few studies that investigate various types of cfDNA fragmentomics patterns in individuals with other diseases. We therefore developed a comprehensive statistic, called fragmentation signatures, that integrates the distributions of fragment positioning, fragment length, and fragment end-motifs in cfDNA. We found that individuals with venous thromboembolism, systemic lupus erythematosus, dermatomyositis, or scleroderma have cfDNA fragmentation signatures that closely resemble those found in individuals with advanced cancers. Furthermore, these signatures were highly correlated with increases i

SUBMITTER: Curtis SD 

PROVIDER: S-EPMC12402995 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature