Fragmentomic analysis of circulating tumor DNA-targeted cancer panels.

ABSTRACT:

Background

The isolation of cell-free DNA (cfDNA) from the bloodstream can be used to detect and analyze somatic alterations in circulating tumor DNA (ctDNA), and multiple cfDNA-targeted sequencing panels are now commercially available for Food and Drug Administration (FDA)-approved biomarker indications to guide treatment. More recently, cfDNA fragmentation patterns have emerged as a tool to infer epigenomic and transcriptomic information. However, most of these analyses used whole-genome sequencing, which is insufficient to identify FDA-approved biomarker indications in a cost-effective manner.

Patients and methods

We used machine learning models of fragmentation patterns at the first coding exon in standard targeted cancer gene cfDNA sequencing panels to distinguish betwe

SUBMITTER: Helzer KT 

PROVIDER: S-EPMC10527168 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature