bioRxivGenomicsPreprint
Low-cost and clinically applicable copy number profiling using repeat DNA
Sam AbujudehiD, Sebastian S. ZekiiD, MCV van Lanschot, Mark PusungiD, Jamie M. J. WeaveriD, X Li, A Noorani, AJ Metz, Jan BornscheiniD, Lawrence BoweriD, Ahmad Miremadi, Rebecca Claire FitzgeraldiD, Edward R. MorrisseyiD, Andy G. LynchiD, Ayesha Noorani, Paul A. EdwardsiD, Nicola Grehan, Barbara Nutzinger, Caitriona Hughes, Elwira Fidziukiewicz, Shona MacRae, Jason CrawteiD, Alex Northrop, Gianmarco ContinoiD, Xiaodun LiiD, , Richard Calvin TurkingtoniD
- Citations
- 2
Abstract
Large-scale cancer genome studies suggest that tumors are driven by somatic copy number alterations (SCNAs) or single-nucleotide variants (SNVs). Due to the low-cost, the clinical use of genomics assays is biased towards targeted gene panels, which identify SNVs. There is a need for a comparably low-cost and simple assay for high-resolution SCNA profiling. Here we present our method, conliga, which infers SCNA profiles from a low-cost and simple assay.
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