ArticleNature communications2022
Genome-wide mutational signatures in low-coverage whole genome sequencing of cell-free DNA.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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
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Who cites it
35 citing papers in PubMed, 82 citations in OpenAlex.
- CfDNA-based copy-number dynamics during anti-PD1 treatment in metastatic triple negative breast cancer.Cell reports. Medicine · 2025Trial
- Advancing the applications of liquid biopsies in oncology.Nature reviews. Genetics · 2026Review
- Multidimensional 5-hydroxymethylcytosine features in cell-free DNA enable the detection, staging and subtyping of pancreatic ductal adenocarcinoma.Biomarker research · 2026Article
- A scalable deep-learning framework for cancer detection using cell-free DNA shallow whole-genome sequencing.Science advances · 2026Article
- Pre-analytical optimization of cell-free DNA and extracellular vesicle-derived DNA for mutation detection in liquid biopsies.Molecular oncology · 2026Article
- Longitudinal ctDNA tracking by low-pass whole-genome sequencing predicts CAR-T outcomes in B-cell lymphomas.iScience · 2026Article
- 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
- 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
- The transformative impact of ultra-rapid nanopore sequencing in precision medicine.Frontiers in immunology · 2026Review
- Liquid biopsy, multi-cancer early detection, and artificial intelligence: new frontiers in cancer screening from a technological and immunological perspective.Frontiers in immunology · 2026Review
- Comprehensive benchmarking of methods for mutation calling in circulating tumor DNA.Nature communications · 2025Article
- Liquid biopsies across the cancer care continuum.Nature medicine · 2025Review
- Clinical applications of cell-free DNA-based liquid biopsy analysis.Translational oncology · 2025Article
- A multi-center study for colorectal cancer early detection in high-risk disease patients using cell-free fragmentomics assay.Cancer cell international · 2025Article
- Promises and pitfalls of multi-cancer early detection using liquid biopsy tests.Nature reviews. Clinical oncology · 2025Review
- Genomic and fragmentomic landscapes of cell-free DNA for early cancer detection.Nature reviews. Cancer · 2025Review
- Improved Quantification of Circulating Tumor DNA in Translocation-Associated Myxoid Liposarcoma by Simultaneous Detection of Breakpoints and Single Nucleotide Variants.Cancer medicine · 2025Article
- Exploring potential therapeutic targets for colorectal tumors based on whole genome sequencing of colorectal tumors and paracancerous tissues.Frontiers in molecular biosciences · 2025Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Mutational signatures accumulate in somatic cells as an admixture of endogenous and exogenous processes that occur during an individual's lifetime. Since dividing cells release cell-free DNA (cfDNA) fragments into the circulation, we hypothesize that plasma cfDNA might reflect mutational signatures. Point mutations in plasma whole genome sequencing (WGS) are challenging to identify through conventional mutation calling due to low sequencing coverage and low mutant allele fractions. In this proof of concept study of plasma WGS at 0.3-1.5x coverage from 215 patients and 227 healthy individuals, we show that both pathological and physiological mutational signatures may be identified in plasma. By applying machine learning to mutation profiles, patients with stage I-IV cancer can be distinguished from healthy individuals with an Area Under the Curve of 0.96. Interrogating mutational processes in plasma may enable earlier cancer detection, and might enable the assessment of cancer risk and etiology.
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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.