A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes enabling multicancer detection - PubMed
3 days ago
- #cancer detection
- #methylation profiling
- #cell-free DNA
- A pan-cancer compendium of 1,294 plasma cell-free DNA methylomes and fragmentomes was created to enable multicancer detection.
- The study involved 1,074 cfMeDIP-seq profiles across 9 studies, covering 11 cancer types, Li-Fraumeni syndrome carriers, and healthy controls.
- A uniform computational workflow was developed to address technical and biological confounders across cohorts.
- Identified 14,202 pancancer differentially methylated regions for cancer detection and cancer-specific markers for subtype monitoring.
- Fragmentomic profiling revealed differences in 5' end motifs, fragment lengths, and nucleosome footprints across cancers.
- Integration of methylome and fragmentome features improved cancer detection and classification.
- Validation in 220 independent samples confirmed the robustness of the findings.
- The study provides a comprehensive resource for future methylome and fragmentome studies.