Integrated fragmentomic profile and 5-Hydroxymethylcytosine of capture-based low-pass sequencing data enables pan-cancer detection via cfDNA.

ABSTRACT:

Background

Using epigenetic markers and fragmentomics of cell-free DNA for cancer detection has been proven applicable.

Methods

We further investigated the diagnostic potential of combining two features (epigenetic markers and fragmentomic information) of cell-free DNA for detecting various types of cancers. To do this, we extracted cfDNA fragmentomic features from 191 whole-genome sequencing data and studied them in 396 low-pass 5hmC sequencing data, which included four common cancer types and control samples.

Results

In our analysis of 5hmC sequencing data from cancer samples, we observed aberrant ultra-long fragments (220-500 bp) that differed from normal samples in terms of both size and coverage profile. These fragments played a significant role in predicting can

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC10209323 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature