Evidence map›Paper›PMID 42430497›Full record

ArticleScience advances2026

A scalable deep-learning framework for cancer detection using cell-free DNA shallow whole-genome sequencing.

Haichao Wang, Paulius D Mennea, Grainne McAndrew, Ozge Sonmezler, Dmitry S Shcherbo, Emma-Jane Ditter, Sarah Østrup Jensen, Alessandra I G Buma, Christopher G Smith, Zhao Cheng and 14 more

Abstract read
In one paragraph

Article in Science advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Haichao WangCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-7648-916X
Paulius D MenneaCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-6967-1975
Grainne McAndrewCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
Ozge SonmezlerCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-2757-718X
Dmitry S ShcherboCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-0266-7015
Emma-Jane DitterCancer Research UK Cambridge Institute, University of Cambridge, Cambridge CB2 0RE, UK.ORCID 0000-0003-0625-7264
Sarah Østrup JensenCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0001-6044-3362
Alessandra I G BumaDepartment of Respiratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
Christopher G SmithCancer Research UK Cambridge Institute, University of Cambridge, Cambridge CB2 0RE, UK.
Zhao ChengCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-3514-240X
Clare HarrisVictor Philip Dahdaleh Heart and Lung Research Institute, Department of Medicine, University of Cambridge, Cambridge CB2 0BB, UK.
Rosalind J CuttsBreast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London SW3 6JB, UK.
Sarah HrebienBreast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London SW3 6JB, UK.ORCID 0009-0000-9121-8299
Philip A J CrosbieDivision of Immunology, Immunity to Infection and Respiratory Medicine, Faculty of Biology Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
Pippa G CorrieDepartment of Oncology, Cambridge University Hospitals NHS Trust, Cambridge CB2 0QQ, UK.
Michel M van den HeuvelDepartment of Respiratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.ORCID 0000-0002-6372-2153
Amit RoshanCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-2034-2759
Frank McCaughanVictor Philip Dahdaleh Heart and Lung Research Institute, Department of Medicine, University of Cambridge, Cambridge CB2 0BB, UK.ORCID 0000-0002-8012-7524
Robert C RintoulCancer Research UK Cambridge Centre, University of Cambridge, Cambridge CB2 0RE, UK.ORCID 0000-0003-3875-3780
Florian MarkowetzCancer Research UK Cambridge Institute, University of Cambridge, Cambridge CB2 0RE, UK.ORCID 0000-0002-2784-5308
Tommy KaplanCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-1892-5461
Wendy N CooperCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0003-3416-9982
Hui ZhaoCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0009-0009-2818-2911
Nitzan RosenfeldCentre for Cancer Cell and Molecular Biology, Barts Cancer Institute, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-2825-4788

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cell-free DNA (cfDNA) in body fluids enables noninvasive cancer detection. Multifeature artificial intelligence (AI) can improve sensitivity by integrating diverse biomarkers when cancer signals are sparse. Tumor-informed assays that rely on mutations have limited practicality for early cancer detection. Emerging fragmentomic and epigenetic features underpin tumor-naive approaches to screening for individuals with low tumor burden. Here, we designed UNITE-a universal cfDNA feature ensemble framework that provides scalable cancer detection methods based on "genomic bin-fragment length" matrices derived from shallow whole-genome sequencing (sWGS) data at 0.1× depth. Using sWGS data from 2063 plasma samples (631 controls and 1432 cases from 26 cancer types), we systematically evaluated both XGBoost (UNITE-XGB) and convolutional neural networks (UNITE-CNN) across multiple feature spaces and cancer stages. In stage I-II cancer, UNITE-XGB and UNITE-CNN achieved 31 and 21% sensitivity, respectively, at 95% specificity. These findings provide roadmaps for developing multifeature AI beyond plasma biopsies.

Indexed as

Cell-Free Nucleic AcidsDeep LearningNeoplasmsWhole Genome SequencingBiomarkers, TumorConvolutional Neural NetworksHumansBiomarkers, TumorCell-Free Nucleic Acids

Identifiers

PMID42430497
PMCPMC13353424

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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.