crossNN is an explainable framework for cross-platform DNA methylation-based classification of tumors

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Publikace nespadá pod Ústav výpočetní techniky, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.
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YUAN Dongsheng JUGAS Robin POKORNÁ Petra ŠTĚRBA Jaroslav SLABÝ Ondřej SCHMID Simone SIEWERT Christin OSBERG Brendan CAPPER David HALLDORSSON Skarphedinn VIK-MO Einar O ZEINER Pia S WEBER Katharina J HARTER Patrick N THOMAS Christian ALBERS Anne RECHSTEINER Markus REIMANN Regina APPELT Anton SCHUELLER Ulrich JABAREEN Nabil MACKOWIAK Sebastian ISHAQUE Naveed EILS Roland LUKASSEN Soeren EUSKIRCHEN Philipp

Rok publikování 2025
Druh Článek v odborném periodiku
Časopis / Zdroj NATURE CANCER
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://www.nature.com/articles/s43018-025-00976-5
Doi http://dx.doi.org/10.1038/s43018-025-00976-5
Popis DNA methylation-based classification of (brain) tumors has emerged as a powerful and indispensable diagnostic technique. Initial implementations used methylation microarrays for data generation, while most current classifiers rely on a fixed methylation feature space. This makes them incompatible with other platforms, especially different flavors of DNA sequencing. Here, we describe crossNN, a neural network-based machine learning framework that can accurately classify tumors using sparse methylomes obtained on different platforms and with different epigenome coverage and sequencing depth. It outperforms other deep and conventional machine learning models regarding accuracy and computational requirements while still being explainable. We use crossNN to train a pan-cancer classifier that can discriminate more than 170 tumor types across all organ sites. Validation in more than 5,000 tumors profiled on different platforms, including nanopore and targeted bisulfite sequencing, demonstrates its robustness and scalability with 99.1% and 97.8% precision for the brain tumor and pan-cancer models, respectively.
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