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bioRxiv · 10.1101/2025.03.09.642284

SVelfie: A method for discovering cancer drivers based on enrichment of likely functional structural variants

Loinaz, X.·Dagan, J.·Alberge, J.-B.·Kowalewski, A.·Miller, M.·Hess, J. M.·Rheinbay, E.·Stewart, C.·Getz, G.
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Abstract

Structural variants (SVs) can drive tumorigenesis, yet discovering SV cancer drivers remains challenging1. Here, we present SVelfie (Structural Variants enriched with likely functional/impactful events), a statistical method to infer driver genes from SVs detected across a cohort of cancer genomes, based on enrichment of likely functional events. When testing SVelfie on lymphoma samples from the Pan-Cancer Analysis of Whole Genomes (PCAWG)2, it corroborates known tumor suppressor genes and also yields novel driver candidates.

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Loinaz, X., Dagan, J., Alberge, J.-B., Kowalewski, A., Miller, M., Hess, J. M., Rheinbay, E., Stewart, C., Getz, G.. 2025-03-10. SVelfie: A method for discovering cancer drivers based on enrichment of likely functional structural variants. https://doi.org/10.1101/2025.03.09.642284

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