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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.
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.
Query 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.
Shares the tags frontier, precision.
Shares Paths to cures: interception, eradication, control, Multi-cancer early detection (MCED), Liquid biopsy (ctDNA), Non-small-cell lung cancer and the tag frontier.
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing and the tag precision.
Shares Cell-free DNA (cfDNA), Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA) and the tag precision.
Shares Cell-free DNA (cfDNA), Multi-cancer early detection (MCED), ctDNA tests roadmap: from a curiosity in plasma to blood tests that decide treatment, Circulating tumour DNA (ctDNA) and the tag precision.
Shares Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing, Non-small-cell lung cancer and the tag precision.
Shares Multi-cancer early detection (MCED), Circulating tumour DNA (ctDNA), MRD / molecular residual disease testing, Liquid biopsy (ctDNA) and the tag precision.
Shares Circulating tumour DNA (ctDNA), Liquid biopsy (ctDNA) and the tag precision.
Open-source projects that implement or serve this technology, from OnCo's own catalogue: licence and last activity as the repository reported them on the day of the fetch. Listing is not endorsement; check the licence before reuse and the validation before clinical use.
Estimates tumour fraction in cell-free DNA from ultra-low-pass whole-genome sequencing, a workhorse of liquid biopsy research.
Code behind the DELFI cell-free DNA fragmentation approach to cancer detection, from the Velculescu lab at Johns Hopkins.
Nucleosome profiling of cell-free DNA to infer tumour phenotypes, such as subtype, from plasma sequencing.
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