cfDNA fragmentomics
Fragmentomics reads the sizes and positions of DNA fragments in blood, not the mutations. Cancer cells die messily and leave a recognisable fragmentation pattern.
Fragmentomics analyses genome-wide cell-free DNA fragment length, end motifs, and nucleosome footprints at low sequencing depth, which is cheaper than deep mutation or methylation sequencing. DELFI Diagnostics commercialised FirstLook Lung (2023) as a blood test to increase uptake of low-dose CT screening, and presented the first randomised clinical-utility data (L301 FIRSTLUNG) at ATS 2026. Fragment features are also being layered into multi-cancer detection and MRD assays by Guardant, GRAIL, and academic groups.
How it works
Plasma cfDNA is whole-genome sequenced at ~1-2x depth; machine learning on fragment-size distributions across genomic windows distinguishes tumour-derived from haematopoietic DNA.
- Low cost per sample
- Complements methylation and mutation signals
- Sensitive to chromatin state of the cell of origin
- Lower specificity than deep methylation panels alone
- Tissue-of-origin resolution weaker than methylation
- Clinical utility (mortality benefit) unproven
Latest papers
topQuery for this technology: (TITLE:"cfDNA fragmentomics" OR ABSTRACT:"cfDNA fragmentomics") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about cfDNA fragmentomics, not a curated reading list.
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