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Updated: May 5, 2026

Cell-Free DNA Integrity Analysis in Urine Samples
Published on: January 5, 2017
Cell-free DNA fragmentomics in cancer
W H Adrian Tsui1, Peiyong Jiang2, Y M Dennis Lo2
1Centre for Novostics, Hong Kong Science Park, Pak Shek Kok, New Territories, Hong Kong SAR, China; Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.
Cell-free DNA (cfDNA) fragmentomics offers new avenues for noninvasive cancer diagnostics by analyzing DNA fragmentation patterns. This approach integrates genomics, epigenetics, and AI for enhanced cancer detection and potential in clinical settings.
Area of Science:
- Oncology
- Genomics
- Biotechnology
Background:
- Cell-free DNA (cfDNA) fragmentation patterns, or fragmentomics, are increasingly recognized for their diagnostic potential in cancer.
- Fragmentomics intersects with cancer biology, including epigenetics, transcriptomics, and cellular turnover.
Purpose of the Study:
- To review the advancements in cfDNA fragmentomics for noninvasive cancer diagnostics.
- To explore novel fragmentomic features and their link to cellular dysfunction in cancer.
- To discuss the role of artificial intelligence (AI) in enhancing fragmentomic analyses for cancer detection.
Main Methods:
- Analysis of cfDNA fragmentation patterns (fragmentomics).
- Integration of library preparation, sequencing technologies, and epigenomic-fragmentomic analyses.
- Application of artificial intelligence algorithms to high-dimensional fragmentomic data.
Main Results:
- Novel fragmentomic features have been identified, revealing specific cancer-related cellular dysfunctions.
- AI algorithms improve the precision and power of cancer detection using fragmentomic data.
- Clinical trials show promising results for fragmentomic analyses in real-world settings.
Conclusions:
- cfDNA fragmentomics represents a promising frontier in noninvasive cancer diagnostics.
- Further research is needed to address critical questions and unlock the full potential of fragmentomics-based liquid biopsies.
- Fragmentomics holds significant promise for improving cancer care through early detection and monitoring.

