MetDecode: methylation-based deconvolution of cell-free DNA for non-invasive multi-cancer typing

Abstract

Cell-free DNA (cfDNA) mediated early cancer detection is based on detecting alterations in the cfDNA components. However, the underlying pathology can usually not be readily identified. We built a reference atlas based on the methylome of multiple cancer and blood-cell types and developed MetDecode, an epigenetic signature-based deconvolution algorithm. MetDecode accurately estimates the tumour proportion inin-silicomixtures and identifies the tissue of origin in 81.25% cfDNA samples from cancer patients. This method will complement cancer screening programs and guide clinical follow-up.