Comprehensive tissue deconvolution of cell-free DNA by deep learning for disease diagnosis and monitoring.

ABSTRACT: Plasma cell-free DNA (cfDNA) is a noninvasive biomarker for cell death of all organs. Deciphering the tissue origin of cfDNA can reveal abnormal cell death because of diseases, which has great clinical potential in disease detection and monitoring. Despite the great promise, the sensitive and accurate quantification of tissue-derived cfDNA remains challenging to existing methods due to the limited characterization of tissue methylation and the reliance on unsupervised methods. To fully exploit the clinical potential of tissue-derived cfDNA, here we present one of the largest comprehensive and high-resolution methylation atlas based on 521 noncancer tissue samples spanning 29 major types of human tissues. We systematically identified fragment-level tissue-specific methylation pattern

SUBMITTER: Li S 

PROVIDER: S-EPMC10334733 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature