ReviewDiagnostics (Basel, Switzerland)2022
Tracing the Origin of Cell-Free DNA Molecules through Tissue-Specific Epigenetic Signatures.
Review in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 42 citations in OpenAlex.
- From imaging to omics: deep learning is bridging MRI and liquid biopsy in bone tumor diagnosis.Journal of bone oncology · 2026Review
- Assessment of radiotherapy effect and toxicity using tissue-associated DNA methylation markers in cell-free DNA: a study on prostate cancer.Radiation and environmental biophysics · 2026Article
- Emerging Role of ctDNA Fragmentomics and Epigenetic Signatures in the Early Detection, Minimal Residual Disease Assessment, and Precision Monitoring of Renal Cell Carcinoma.Journal of cellular and molecular medicine · 2026Review
- Epigenetic profiling of circulating cell-free DNA for early detection and minimal residual disease assessment in lung cancer: a focus on DNA methylation.Frontiers in oncology · 2026Review
- Review
- Impact of Long-Term Plasma Storage on Cell-Free DNA Epigenetic Biomarker Studies.Biomolecules · 2025Article
- Genome-wide methylation profiling of maternal cell-free DNA using methylated DNA sequencing (MeD-seq) indicates a placental and immune-cell signature.European journal of clinical investigation · 2025Article
- Cell-free epigenomes enhanced fragmentomics-based model for early detection of lung cancer.Clinical and translational medicine · 2025Article
- Cell-free DNA release following psychosocial and physical stress in women and men.Translational psychiatry · 2025Article
- Artificial intelligence and machine learning in cell-free-DNA-based diagnostics.Genome research · 2025Review
- Systematic evaluation of methylation-based cell type deconvolution methods for plasma cell-free DNA.Genome biology · 2024Article
- Cell-free placental DNA: What do we really know?PLoS genetics · 2024Review
- Detection of Brain-Derived Cell-Free DNA in Plasma.Diagnostics (Basel, Switzerland) · 2024Article
- Review
- Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study.The Lancet regional health. Europe · 2024Article
- Use of ctDNA in early breast cancer: analytical validity and clinical potential.NPJ breast cancer · 2024Review
- Hypobaric hypoxia modulated structural characteristics of circulating cell-free DNA in high-altitude pulmonary edema.American journal of physiology. Lung cellular and molecular physiology · 2024Article
- Targeted Sequencing of Human Satellite 2 Repeat Sequences in Plasma cfDNA Reveals Potential Breast Cancer Biomarkers.Diagnostics (Basel, Switzerland) · 2024Article
- Article
- Precise Therapy Using the Selective Endogenous Encapsidation for Cellular Delivery Vector System.Pharmaceutics · 2024Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
All cell and tissue types constantly release DNA fragments into human body fluids by various mechanisms including programmed cell death, accidental cell degradation and active extrusion. Particularly, cell-free DNA (cfDNA) in plasma or serum has been utilized for minimally invasive molecular diagnostics. Disease onset or pathological conditions that lead to increased cell death alter the contribution of different tissues to the total pool of cfDNA. Because cfDNA molecules retain cell-type specific epigenetic features, it is possible to infer tissue-of-origin from epigenetic characteristics. Recent research efforts demonstrated that analysis of, e.g., methylation patterns, nucleosome occupancy, and fragmentomics determined the cell- or tissue-of-origin of individual cfDNA molecules. This novel tissue-of origin-analysis enables to estimate the contributions of different tissues to the total cfDNA pool in body fluids and find tissues with increased cell death (pathologic condition), expanding the portfolio of liquid biopsies towards a wide range of pathologies and early diagnosis. In this review, we summarize the currently available tissue-of-origin approaches and point out the next steps towards clinical implementation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.