Relationships may not relate to the subject matter of this manuscript. I = Immediate Family Member, Inst = My Institution. Relationships are self-held unless noted. All relationships are considered compensated unless otherwise noted. The following represents disclosure information provided by authors of this manuscript. The ECOG-ACRIN Cancer Research Group Operations Office was supported by U10CA180820.ĪUTHORS' DISCLOSURES OF POTENTIAL CONFLICTS OF INTEREST Z.G was supported by Leukemia & Lymphoma Society's Career Development Program Special Fellow and NIH/NCI K99/R00 Award CA241297. was supported by St Jude Cancer Center Support Grants CA021765 and R35 CA197695 and the American Lebanese Syrian Associated Charities (ALSAC). were supported by National Cancer Institute Grants UG1CA232760 and UG1CA189859. was supported by NIH/NIDDK (K01DK119582). was supported in part by the University Cancer Research Fund from the UNC Lineberger Comprehensive Cancer Center. was provided by the Carolina for the Kids Research Grant, the University of North Carolina Oncology K12 (K12CA120780), and the University Cancer Research Fund from the UNC Lineberger Comprehensive Cancer Center. Presented in part at the International Society of Pediatric Oncology Annual Meeting, virtual, October 24, 2021. Nanopore-based RNA sequencing has the potential to provide a transformative low-cost, flexible, and scalable approach for diagnosis of acute leukemia, particularly where conventional diagnostic approaches are unavailable. The classification is robust across data generated using a variety of extraction protocols and library preparation approaches, with and without multiplexing. Using novel machine learning algorithms, leukemia cases can be successfully classified into lineage and genomic subtypes on the basis of unbiased gene expression profiling generated by nanopore sequencing. To develop a diagnostic tool with the potential to close this global diagnostic gap in pediatric oncology, we explored whether mRNA sequencing using a low-cost, long-read nanopore sequencing platform could classify subtypes of acute leukemia. Comprehensive classification of leukemia using short-read RNA sequencing is established, but the costs are prohibitive in most low- and middle-income countries. Most children with leukemia globally are diagnosed in low- and middle-income countries, where there is limited access to tools for accurate diagnosis.
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