Epigenetic liquid biopsies: a novel putative biomarker in immunology and inflammation

Ilana Fox-Fisher, Ruth Shemer, Yuval Dor*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

5 Scopus citations


Immune and inflammatory processes occurring within tissues are often undetectable by blood cell counts, standard circulating biomarkers, or imaging, representing an unmet biomedical need. Here, we outline recent advances indicating that liquid biopsies can broadly inform human immune system dynamics. Nucleosome-size fragments of cell-free DNA (cfDNA) released from dying cells into blood contain rich epigenetic information such as methylation, fragmentation, and histone mark patterns. This information allows to infer the cfDNA cell of origin, as well as pre-cell death gene expression patterns. We propose that the analysis of epigenetic features of immune cell-derived cfDNA can shed light on immune cell turnover dynamics in healthy people, and inform the study and diagnosis of cancer, local inflammation, infectious or autoimmune diseases, as well as responses to vaccination.

Original languageAmerican English
Pages (from-to)356-364
Number of pages9
JournalTrends in Immunology
Issue number5
StatePublished - May 2023

Bibliographical note

Publisher Copyright:
© 2023 Elsevier Ltd


  • DNA methylation
  • cell-free DNA
  • epigenetics
  • immune cell death
  • liquid biopsy


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