ArticleNature genetics2023
Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer.
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The Predictive Role of ctDNA and CTCs in Patients with Advanced Non-Small Cell Lung Cancer Receiving Immunotherapy: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2026Pooled it
- A scalable deep-learning framework for cancer detection using cell-free DNA shallow whole-genome sequencing.Science advances · 2026Article
- Article
- Current trends and future directions of artificial intelligence in lung cancer diagnosis.Chinese journal of cancer research = Chung-kuo yen cheng yen chiu · 2026Article
- Artificial Intelligence in Lung Cancer: From Early Detection to Personalized Therapy.Current oncology reports · 2026Review
- Integrative fragmentomic and mutational signature profile of plasma cfDNA for early lung cancer detection.NPJ precision oncology · 2026Article
- Harnessing genomics for early cancer detection, risk stratification and prevention.Nature genetics · 2026Review
- Cell-free DNA fragmentomes for noninvasive detection of liver cirrhosis and other diseases.Science translational medicine · 2026Article
- Cancer-Like Fragmentomic Characteristics of Somatic Variants in Cell-Free DNA.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Integrating liquid biopsy and mutational signatures to advance precision oncology.NPJ precision oncology · 2026Review
- DeepGene-BC: Deep Learning-Based Breast Cancer Subtype Prediction via Somatic Point Mutation Profiles.Cancers · 2026Article
- Liquid biopsies in precision oncology for older adults with cancer.NPJ precision oncology · 2026Review
- Liquid biopsies for detection, characterization, and interception of therapy resistance in thoracic malignancies.Frontiers in oncology · 2026Review
- Liquid biopsies across the cancer care continuum.Nature medicine · 2025Review
- Genomics and Epigenomics Approaches for the Quantification of Circulating Tumor DNA in Liquid Biopsy: Relevance of a Multimodal Strategy.International journal of molecular sciences · 2025Review
- A large-scale, multi-centre validation study of an AI-empowered blood-based test for multi-cancer early detection.NPJ precision oncology · 2025Article
- Promises and pitfalls of multi-cancer early detection using liquid biopsy tests.Nature reviews. Clinical oncology · 2025Review
- Early detection of multiple cancer types using multidimensional cell-free DNA fragmentomics.Nature medicine · 2025Article
- Genome-wide analyses of cell-free DNA for therapeutic monitoring of patients with pancreatic cancer.Science advances · 2025Article
- Genomic and fragmentomic landscapes of cell-free DNA for early cancer detection.Nature reviews. Cancer · 2025Review
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Abstract
Somatic mutations are a hallmark of tumorigenesis and may be useful for non-invasive diagnosis of cancer. We analyzed whole-genome sequencing data from 2,511 individuals in the Pan-Cancer Analysis of Whole Genomes (PCAWG) study as well as 489 individuals from four prospective cohorts and found distinct regional mutation type-specific frequencies in tissue and cell-free DNA from patients with cancer that were associated with replication timing and other chromatin features. A machine-learning model using genome-wide mutational profiles combined with other features and followed by CT imaging detected >90% of patients with lung cancer, including those with stage I and II disease. The fixed model was validated in an independent cohort, detected patients with cancer earlier than standard approaches and could be used to monitor response to therapy. This approach lays the groundwork for non-invasive cancer detection using genome-wide mutation features that may facilitate cancer screening and monitoring.
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