Genome-wide analysis of aberrant position and sequence of plasma DNA fragment ends in patients with cancer.

ABSTRACT: Genome-wide fragmentation patterns in cell-free DNA (cfDNA) in plasma are strongly influenced by cellular origin due to variation in chromatin accessibility across cell types. Such differences between healthy and cancer cells provide the opportunity for development of novel cancer diagnostics. Here, we investigated whether analysis of cfDNA fragment end positions and their surrounding DNA sequences reveals the presence of tumor-derived DNA in blood. We performed genome-wide analysis of cfDNA from 521 samples and analyzed sequencing data from an additional 2147 samples, including healthy individuals and patients with 11 different cancer types. We developed a metric based on genome-wide differences in fragment positioning, weighted by fragment length and GC content [information-weighted frac

SUBMITTER: Budhraja KK 

PROVIDER: S-EPMC10080578 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature