Observational studyNature communications2021
Detection and characterization of lung cancer using cell-free DNA fragmentomes.
Observational study in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 272 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Assessment of a Novel Blood Test in Early Detection of the Five Common Cancers Based on the Investigation of the Circulating Tumour DNA
A Prospective Study of Plasma Cell-free DNA Fragmentomics for Early Detection of Pancreatic Neuroendocrine Tumors and Differential Diagnosis of Solid Pancreatic Tumors
Scientific Research on Exploring a Breast Cancer Early Screening Model Using cfDNA Multi-omics Liquid Biopsy Technology Based on Deep Learning
Who cites it
272 citing papers in PubMed, 1 synthesis or guideline pooled it, 441 citations in OpenAlex.
- Innovative technologies and their clinical prospects for early lung cancer screening.Clinical and experimental medicine · 2025Pooled it
- ctDNA and tumor-based biomarkers of giredestrant response in acelERA breast cancer.Nature communications · 2026Trial
- Genomic instability, postoperative recurrence and therapeutic vulnerabilities in resectable non‑small cell lung cancer (Review).Oncology reports · 2026Review
- Review
- Liquid biopsy for early detection of pancreatic ductal adenocarcinoma.Nature medicine · 2026Article
- Advancing the applications of liquid biopsies in oncology.Nature reviews. Genetics · 2026Review
- Noninvasive detection and differentiation of gastric malignancy using cell-free DNA biomarkers.Journal of advanced research · 2026Article
- Review
- The urinary-metabolite-based lung cancer index (uLCI): an interpretable machine-learning risk model for early-stage disease.medRxiv : the preprint server for health sciences · 2026Article
- A Noninvasive Circulating Tumor DNA Methylation Classifier to Identify Benign Pulmonary Nodules.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- A Panel of Circulating Exosomal sncRNAs Associated With Lung Cancer Risk up to 10 Years in Advance.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Blockade of Tumor-Intrinsic TGFβ Signaling Drives Hyperprogression in Small Cell Lung Cancer.Cancer discovery · 2026Article
- Multifeature sequencing-based liquid biopsy for cancer diagnosis and monitoring.Genome medicine · 2026Review
- Applications of Artificial Intelligence in Cancer Diagnosis and Treatment.Cancer medicine · 2026Review
- MammaTrace - a tumor naïve cell-free DNA methylation test for minimal residual disease in breast cancer.NPJ precision oncology · 2026Article
- Toward generalizable prediction of cancer signal using a cell-free DNA language model.Cell reports. Medicine · 2026Article
- [Clinical Frontiers and Applications Progress of ctDNA in Precision Treatment of Non-small Cell Lung Cancer].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2026Review
- A scalable deep-learning framework for cancer detection using cell-free DNA shallow whole-genome sequencing.Science advances · 2026Article
- Integration of breaking-point transition probabilities and specific open chromatin region features for early cancer detection.Cell communication and signaling : CCS · 2026Article
- ALFAssay: A feed‑forward neural network for quantitative fragmentomics‑based ctDNA profiling in breast cancer.PLoS computational biology · 2026Article
212 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
38 authors at 7 institutions in 3 countries.
Funding
Abstract
Non-invasive approaches for cell-free DNA (cfDNA) assessment provide an opportunity for cancer detection and intervention. Here, we use a machine learning model for detecting tumor-derived cfDNA through genome-wide analyses of cfDNA fragmentation in a prospective study of 365 individuals at risk for lung cancer. We validate the cancer detection model using an independent cohort of 385 non-cancer individuals and 46 lung cancer patients. Combining fragmentation features, clinical risk factors, and CEA levels, followed by CT imaging, detected 94% of patients with cancer across stages and subtypes, including 91% of stage I/II and 96% of stage III/IV, at 80% specificity. Genome-wide fragmentation profiles across ~13,000 ASCL1 transcription factor binding sites distinguished individuals with small cell lung cancer from those with non-small cell lung cancer with high accuracy (AUC = 0.98). A higher fragmentation score represented an independent prognostic indicator of survival. This approach provides a facile avenue for non-invasive detection of lung cancer.
Indexed as
Identifiers
What OpenQuestion holds
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.