biorxiv.org

cfMIND: A read-level methylation framework for accurate non- invasive disease detection using cell-free DNA (opens in new tab)

Plasma cell-free DNA (cfDNA) emerged as a promising non-invasive biomarker for cancers. However, reliable detection remains challenging due to the low abundance of tumor-derived cfDNA fragments and the dilution of informative methylation signals when aggregated into region-level features. Here, we propose a novel approach cfMIND, an efficient and robust machine-learning framework that leverages stratified read-level methylation signals to preserve rare cell-type-specific information and enhan...

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