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Rapid epigenomic classification of acute leukaemia


Acute leukaemia is an aggressive and rapidly progressing blood cancer that requires immediate and accurate diagnosis to start the right treatment. Standard diagnostic tests for acute leukaemia can take several weeks, delaying treatment decisions. Using Oxford Nanopore sequencing with MARLIN — a machine learning method trained on methylation profiles — researchers classified leukaemia subtypes in under two hours from sample receipt. Matching standard diagnostics and revealing hidden genetic drivers, this approach demonstrates the potential for rapid, comprehensive cancer characterisation.

'Together, these data highlight the potential of MARLIN and nanopore sequencing to greatly accelerate diagnostic workflows for patients presenting with AL'​

Steinicke and Benfatto et al. 2025

Watch Salvatore Benfatto's talk at London Calling 2025

Sample type: DNA from bone marrow, peripheral blood, or pericardial fluid

Kit: Ligation Sequencing Kit, Rapid Barcoding Kit, Rapid Sequencing Kit

Authors: Til L. Steinicke, Salvatore Benfatto, Maria de los Reyes Capilla Guerra, Andre B. Monteleone, Jonathan H. Young, Subha Shankar, Phillip D. Michaels, Harrison K. Tsai, Jonathan Good, Antonia Kreso, Peter van Galen, Christoph Schliemann, Evan C. Chen, Gabriel K. Griffin, Volker Hovestadt

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