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Towards accesible brain-tumor classification at the point of care Nanopore methylation sequencing from Formalin Fixed Paraffin Embedded (FFPE) pathology samples

Feinberg-Gorenshtein, G.; Grunwald, A.; Vermeulen, C.; Mark, N. G.; Manman, L. S.; Shihrur, K.; Hameiri-Grossman, M.; Michaeli, O.; Fishman, S.; Natan, A.; Sigal, T.; Katz, s. Y.; Weiss, H.; Levi-Barada, A.; Konen, O.; Kershenovich, A.; de Ridder, J.; Birger, Y.; Izraeli, S.; Ebenstein, Y.

2024-05-03 genetic and genomic medicine
10.1101/2024.05.02.24306400 medRxiv
Show abstract

Oxford Nanopore Technology (ONT) based methylation sequencing is increasingly recognized for its rapid and accurate classification of brain tumors. A process that is crucial for optimal patient treatment. However, widespread clinical utility is currently limited by the need for fresh-frozen biopsies and not the standard-of-care formalin-fixed, paraffin-embedded (FFPE) samples. Our study explores the impact of FFPE on DNA methylation and presents a developed and validated protocol for ONT-based FFPE tumor classification. We present a practical solution for precise brain tumor diagnoses in routine clinical settings and facilitating timely treatment decisions at the point of care and without interfering with operating room standards.

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