Evidence map›Paper›PMID 39979307›Full record

ArticleNature communications2025

Explainable artificial intelligence of DNA methylation-based brain tumor diagnostics.

Salvatore Benfatto, Martin Sill, David T W Jones, Stefan M Pfister, Felix Sahm, Andreas von Deimling, David Capper, Volker Hovestadt

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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

20 citing papers in PubMed.

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  12. Neurooncology: 2026 update.Free neuropathology · 2026
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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

8 authors.

Salvatore BenfattoDepartment of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.ORCID http://orcid.org/0000-0003-4439-3136
Martin SillDivision of Pediatric Neurooncology, Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
David T W JonesNational Center for Tumor Diseases (NCT), NCT Heidelberg, a partnership between DKFZ and Heidelberg University Hospital, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-2036-5141
Stefan M PfisterDivision of Pediatric Neurooncology, Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.ORCID http://orcid.org/0000-0002-5447-5322
Felix SahmDepartment of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-5441-1962
Andreas von DeimlingDepartment of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-5863-540X
David CapperDepartment of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.ORCID http://orcid.org/0000-0003-1945-497X
Volker HovestadtDepartment of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. volker_hovestadt@dfci.harvard.edu.ORCID http://orcid.org/0000-0002-3480-6649

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We have recently developed a machine learning classifier that enables fast, accurate, and affordable classification of brain tumors based on genome-wide DNA methylation profiles that is widely employed in the clinic. Neuro-oncology research would benefit greatly from understanding the underlying artificial intelligence decision process, which currently remains unclear. Here, we describe an interpretable framework to explain the classifier's decisions. We show that functional genomic regions of various sizes are predominantly employed to distinguish between different tumor classes, ranging from enhancers and CpG islands to large-scale heterochromatic domains. We detect a high degree of genomic redundancy, with many genes distinguishing individual tumor classes, explaining the robustness of the classifier and revealing potential targets for further therapeutic investigation. We anticipate that our resource will build up trust in machine learning in clinical settings, foster biomarker discovery and development of compact point-of-care assays, and enable further epigenome research of brain tumors. Our interpretable framework is accessible to the research community via an interactive web application ( https://hovestadtlab.shinyapps.io/shinyMNP/ ).

Indexed as

Artificial IntelligenceBrain NeoplasmsDNA MethylationBiomarkers, TumorCpG IslandsHumansMachine LearningBiomarkers, Tumor

Identifiers

PMID39979307
PMCPMC11842776

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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 Socratic graph.