{"entity":{"id":"paper-cristiano-delfi-fragmentomes-nature-2019","kind":"paper","name":"Genome-wide cell-free DNA fragmentation in patients with cancer","aka":[],"tldr":"The DELFI paper showed that the size and spacing of DNA fragments in blood differ in people with cancer, enough to detect seven cancer types in a laboratory comparison.","summary":"Cristiano and colleagues developed DELFI, which reads genome-wide fragmentation profiles of cell-free DNA from low-coverage whole-genome sequencing. In 236 patients with breast, colorectal, lung, ovarian, pancreatic, gastric or bile duct cancer and 245 healthy individuals, a machine-learning model detected cancer with sensitivities of 57% to more than 99% across the seven types at 98% specificity and localised tissue of origin to a limited number of sites in 75% of cases. Combined with mutation analysis, the approach detected 91% of patients with cancer.","asOf":"2026-10-29","links":[{"label":"Nature 2019: DELFI","url":"https://doi.org/10.1038/s41586-019-1272-6"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/31142840/"}],"tags":[],"related":[],"cancers":[],"sections":["early-detection"],"technologies":["fragmentomics","mced","liquid-biopsy"],"targets":[],"drugs":[],"companies":["delfi-diagnostics"],"institutions":["johns-hopkins"],"pathways":[],"terms":["cfdna"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["nature"],"dependsOn":[],"notes":[],"journal":"Nature","year":2019,"doi":"10.1038/s41586-019-1272-6","pmid":"31142840","authors":"Cristiano S, Leal A, Phallen J, et al.","paperType":"translational","findings":["Sensitivity 57% to more than 99% across seven cancer types at 98% specificity.","Tissue of origin narrowed to a few sites in 75% of cases.","With mutation analysis, 91% of patients with cancer detected."],"whatItMeans":"Fragment patterns are a cheap signal that needs only shallow sequencing; Delfi Diagnostics now sells a lung-only test built on it, and several multi-cancer tests add fragmentomics to methylation.","caveats":["Case-control with known cancers; not a screening result."],"changedPractice":false,"participants":481},"route":"/key-papers/paper-cristiano-delfi-fragmentomes-nature-2019/","neighbours":{"section":[{"id":"early-detection","kind":"section","name":"Early Detection & Screening","route":"/fronts/early-detection/"}],"technology":[{"id":"fragmentomics","kind":"technology","name":"cfDNA fragmentomics","route":"/technologies/fragmentomics/"},{"id":"liquid-biopsy","kind":"technology","name":"Liquid biopsy (ctDNA)","route":"/technologies/liquid-biopsy/"},{"id":"mced","kind":"technology","name":"Multi-cancer early detection (MCED)","route":"/technologies/mced/"}],"company":[{"id":"delfi-diagnostics","kind":"company","name":"DELFI Diagnostics","route":"/companies/delfi-diagnostics/"}],"institution":[{"id":"johns-hopkins","kind":"institution","name":"Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center","route":"/institutions/johns-hopkins/"}],"term":[{"id":"cfdna","kind":"term","name":"Cell-free DNA (cfDNA)","route":"/terms/cfdna/"}],"journal":[{"id":"nature","kind":"journal","name":"Nature","route":"/journals/nature/"}]}}