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@ARTICLE{Patel:300147,
      author       = {A. J. Patel$^*$ and K. Göbel$^*$ and S. Ille and F.
                      Hinz$^*$ and N. Schoebe$^*$ and H. Bogumil$^*$ and J.
                      Meyer$^*$ and M. Brehm$^*$ and H. Kardo$^*$ and D.
                      Schrimpf$^*$ and A. Lomakin$^*$ and M. Ritter$^*$ and P.
                      Göller$^*$ and P. Kerbs$^*$ and L. Pfeifer$^*$ and S.
                      Hamelmann$^*$ and C. Blume$^*$ and F. Ippen$^*$ and N.
                      Berghaus$^*$ and P. Euskirchen$^*$ and L. Schweizer$^*$ and
                      C. Hultschig and N. Van Roy and J. Van Dorpe and J. Van der
                      Meulen and S. Loontiens and F. Dedeurwaerdere and H. Leske
                      and S. Halldórsson and G. Fox and S. Deacon and I. Cahyani
                      and N. Holmes and S. Wibowo and R. Munro and D. Martin and
                      A. Sharif and M. Housley and R. Goldspring and S. Brandner
                      and S. Roy and J. Hench and S. Frank and A. Unterberg and V.
                      Goidts$^*$ and N. Jäger$^*$ and S. Paine and S. Smith and
                      C. Herold-Mende and W. Wick$^*$ and S. Pfister$^*$ and E. O.
                      Vik-Mo and A. von Deimling$^*$ and S. Krieg and D. T.
                      Jones$^*$ and M. Loose and M. Schlesner and M. Sill$^*$ and
                      F. Sahm$^*$},
      title        = {{P}rospective, multicenter validation of a platform for
                      rapid molecular profiling of central nervous system tumors.},
      journal      = {Nature medicine},
      volume       = {31},
      number       = {5},
      issn         = {1078-8956},
      address      = {[New York, NY]},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2025-00638},
      pages        = {1567-1577},
      year         = {2025},
      note         = {#EA:B300#LA:B300#LA:B062# / 2025 May;31(5):1567-1577},
      abstract     = {Molecular data integration plays a central role in central
                      nervous system (CNS) tumor diagnostics but currently used
                      assays pose limitations due to technical complexity,
                      equipment and reagent costs, as well as lengthy turnaround
                      times. We previously reported the development of Rapid-CNS2,
                      an adaptive-sampling-based nanopore sequencing workflow.
                      Here we comprehensively validated and further developed
                      Rapid-CNS2 for intraoperative use. It now offers real-time
                      methylation classification and DNA copy number information
                      within a 30-min intraoperative window, followed by
                      comprehensive molecular profiling within 24 h, covering the
                      complete spectrum of diagnostically and therapeutically
                      relevant information for the respective entity. We validated
                      Rapid-CNS2 in a multicenter setting on 301 archival and
                      prospective samples including 18 samples sequenced
                      intraoperatively. To broaden the utility of
                      methylation-based CNS tumor classification, we developed
                      MNP-Flex, a platform-agnostic methylation classifier
                      encompassing 184 classes. MNP-Flex achieved $99.6\%$
                      accuracy for methylation families and $99.2\%$ accuracy for
                      methylation classes with clinically applicable thresholds
                      across a global validation cohort of more than 78,000 frozen
                      and formalin-fixed paraffin-embedded samples spanning five
                      different technologies. Integration of these tools has the
                      potential to advance CNS tumor diagnostics by providing
                      broad access to rapid, actionable molecular insights crucial
                      for personalized treatment strategies.},
      cin          = {B300 / HD01 / B450 / BE01 / FM01 / B067 / B062 / B320 /
                      B360},
      ddc          = {610},
      cid          = {I:(DE-He78)B300-20160331 / I:(DE-He78)HD01-20160331 /
                      I:(DE-He78)B450-20160331 / I:(DE-He78)BE01-20160331 /
                      I:(DE-He78)FM01-20160331 / I:(DE-He78)B067-20160331 /
                      I:(DE-He78)B062-20160331 / I:(DE-He78)B320-20160331 /
                      I:(DE-He78)B360-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40133526},
      doi          = {10.1038/s41591-025-03562-5},
      url          = {https://inrepo02.dkfz.de/record/300147},
}