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024 7 _ |a 10.1016/j.ccell.2025.11.002
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024 7 _ |a pmid:41349541
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024 7 _ |a 1535-6108
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024 7 _ |a 1878-3686
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037 _ _ |a DKFZ-2025-02781
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Sill, Martin
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245 _ _ |a Advancing CNS tumor diagnostics with expanded DNA methylation-based classification.
260 _ _ |a Cambridge, Mass.
|c 2025
|b Cell Press
336 7 _ |a article
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336 7 _ |a Journal Article
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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500 _ _ |a #EA:B062#LA:B300#LA:B360# / epub
520 _ _ |a DNA methylation-based classification is now central to contemporary neuro-oncology, as highlighted by the World Health Organization (WHO) classification of central nervous system (CNS) tumors. We present the Heidelberg CNS Tumor Methylation Classifier version 12.8 (v12.8), trained on 7,495 methylation profiles, which expands recognized entities from 91 classes in version 11 (v11) to 184 subclasses. This expansion is a result of newly identified tumor types discovered through our large online repository and global collaborations, underscoring CNS tumor heterogeneity. The random forest-based classifier achieves 95% subclass-level accuracy, with its well-calibrated probabilistic scores providing a reliable measure of confidence for each classification. Its hierarchical output structure enables interpretation across subclass, class, family, and superfamily levels, thereby supporting clinical decisions at multiple granularities. Comparative analyses demonstrate that v12.8 surpasses previous versions and conventional WHO-based approaches. These advances highlight the improved precision and practical utility of the updated classifier in personalized neuro-oncology.
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650 _ 7 |a CNS tumors
|2 Other
650 _ 7 |a DNA methylation
|2 Other
650 _ 7 |a MLOps
|2 Other
650 _ 7 |a artificial intelligence
|2 Other
650 _ 7 |a classification
|2 Other
650 _ 7 |a epigenetics
|2 Other
650 _ 7 |a machine learning
|2 Other
650 _ 7 |a molecular diagnostics
|2 Other
650 _ 7 |a precision medicine
|2 Other
650 _ 7 |a tumor heterogeneity
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700 1 _ |a Schrimpf, Daniel
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Marc 21