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Ultrarapid Targeted Nanopore Sequencing for Fusion Detection of Leukemias

Yeung, C. C.; Sala-Torra, O.; Reddy, S.; Hung, L.-H.; Radich, J. P.; Yeung, K. Y.

2022-06-23 pathology
10.1101/2022.06.20.22276664 medRxiv
Show abstract

Acute leukemia (AL), a cancer of the blood, has continued high mortality rates despite a plethora of available treatments. Variable prognosis, treatment response and survival are largely based on distinct cytogenetic and molecular aberrations that characterize AL subtypes. Fast and cost-effective methods of detecting AL fusions and mutations are needed to improve clinical outcomes for patients. We report preliminary data on an ultrarapid and portable nanopore long-read sequencing assay with a same-day turnaround time of ~6-7 hours for identifying key leukemic fusions. Leukemias frequently present with recurrent fusions that impact risk stratification and therapy choice, our assay can help oncologists overcome time related challenges to get patients on treatments faster.

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