A DNA alteration and methylation co-detection method for clinical purpose

ABSTRACT: Traditional approaches for capturing genomic alterations and DNA methylation require separate assays, complicating clinical workflows and limiting sample utilization, particularly with low-input materials like cell-free DNA. To address these challenges, we introduce a streamlined approach combining mutation and methylation profiling via mutation-protective strand synthesis with modified deoxycytidine triphosphates, demonstrating high concordance with standard enzymatic methyl-seq and DNA-seq in both whole-genome sequencing of cell lines and targeted sequencing of clinical samples. In potential clinical contexts, incorporating multi-omics information with this approach modestly improve circulating tumor DNA (ctDNA) detection by approximately 12% in pre-treatment lung cancer patients (N = 2

SUBMITTER: JIyan Yu 

PROVIDER: S-SCDT-10_1038-S44321-025-00259-7 | biostudies-other |

REPOSITORIES: biostudies-other