Cell-free DNA analysis in healthy individuals by next-generation sequencing: a proof of concept and technical validation study.

ABSTRACT: Pre-symptomatic screening of genetic alterations might help identify subpopulations of individuals that could enter into early access prevention programs. Since liquid biopsy is minimally invasive it can be used for longitudinal studies in healthy volunteers to monitor events of progression from normal tissue to pre-cancerous and cancerous condition. Yet, cell-free DNA (cfDNA) analysis in healthy individuals comes with substantial challenges such as the lack of large cohort studies addressing the impact of mutations in healthy individuals or the low abundance of cfDNA in plasma. In this study, we aimed to investigate the technical feasibility of cfDNA analysis in a collection of 114 clinically healthy individuals. We first addressed the impact of pre-analytical factors such as cfDNA yield

SUBMITTER: Alborelli I 

PROVIDER: S-EPMC6624284 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature