Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA.

ABSTRACT: Multi-cancer early detection remains a key challenge in cell-free DNA (cfDNA)-based liquid biopsy. Here, we perform cfDNA whole-genome sequencing to generate two test datasets covering 2125 patient samples of 9 cancer types and 1241 normal control samples, and also a reference dataset for background variant filtering based on 20,529 low-depth healthy samples. An external cfDNA dataset consisting of 208 cancer and 214 normal control samples is used for additional evaluation. Accuracy for cancer detection and tissue-of-origin localization is achieved using our algorithm, which incorporates cancer type-specific profiles of mutation distribution and chromatin organization in tumor tissues as model references. Our integrative model detects early-stage cancers, including those of pancreatic orig

SUBMITTER: Bae M 

PROVIDER: S-EPMC10085982 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature