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Improved Gene Fusion Detection in Childhood Cancer Diagnostics Using RNA Sequencing

2022; Lippincott Williams & Wilkins; Issue: 6 Linguagem: Inglês

10.1200/po.20.00504

2473-4284

Jayne Y. Hehir‐Kwa, Marco J. Koudijs, Eugène T. P. Verwiel, Lennart Kester, Marc van Tuil, Eric Strengman, Arjan Buijs, Mariëtte E.G. Kranendonk, Laura S. Hiemcke‐Jiwa, Valérie de Haas, Ellen van de Geer, Wendy de Leng, Jasper van der Lugt, Philip Lijnzaad, Frank C. P. Holstege, Patrick Kemmeren, Bastiaan B. J. Tops,

RNA modifications and cancer

Gene fusions play a significant role in cancer etiology, making their detection crucial for accurate diagnosis, prognosis, and determining therapeutic targets. Current diagnostic methods largely focus on either targeted or low-resolution genome-wide techniques, which may be unable to capture rare events or both fusion partners. We investigate if RNA sequencing can overcome current limitations with traditional diagnostic techniques to identify gene fusion events.