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Cell-free DNA fragmentomes for noninvasive detection of liver cirrhosis and other diseases - PubMed

12 hours ago
  • #cell-free DNA
  • #machine learning
  • #liver cirrhosis
  • Cell-free DNA (cfDNA) fragmentomes can be used for noninvasive detection of liver cirrhosis and other diseases.
  • A machine learning classifier was developed to detect early liver disease, advanced fibrosis, and cirrhosis with high sensitivity.
  • The study involved 1576 individuals, including those with liver disease and other morbidities like vascular, autoimmune, and neurodegenerative conditions.
  • Genome-wide fragmentome and methylome analyses revealed liver-derived and immune-mediated changes in cfDNA in individuals with liver disease.
  • Fragmentomic changes were observed across various human morbidities, reflecting disease-specific changes in circulation.
  • A machine learning model using cfDNA fragmentomes predicted overall survival in separate morbidity cohorts.
  • The study demonstrates the connection between cfDNA fragmentomes and an individual's physiologic state, offering new possibilities for cfDNA liquid biopsies.