Johns Hopkins researchers and collaborators published pilot data showing cell-free DNA fragmentation patterns—the fragmentome—can identify liver disease states including fibrosis and cirrhosis using blood-based liquid biopsy methods. The team leveraged genome-wide cfDNA fragmentation and AI-driven classifiers in a Science Translational Medicine report to distinguish organ-specific injury and immune-related signals. Separately, a genome-wide cfDNA fragmentomics approach from the Johns Hopkins Kimmel Cancer Center group demonstrated proof of concept for non-cancer liver disease detection. Fragmentomics profiles DNA fragment endpoints and nucleosome footprints to infer tissue of origin; developers say the technique may expand liquid biopsy applications beyond oncology into chronic organ disease surveillance and population screening.
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