Assessing the Accuracy of the NeuroBooster Array for GBA1 Variant Detection
Marco ToffoliiD, Laurel ScreveniD, Aaron Jeffries, Raquel RealiD, Georgia Pittwood, Amelia Anderson, Selen Yalkic, Finlay Fraser, Jakub Stepniak, Ilaria Palmieri, Paola Dimartino, Enza Maria ValenteiD, Global Parkinson's Genetics Program (GP2), Lara M Lange, Cornelis BlauwendraatiD, Huw R Morris, Anthony HV Schapira
Abstract
GBA1 variants are major Parkinson's disease risk factors, but their detection is challenging. We compared NeuroBooster Array (NBA) genotyping with reference sequencing in 3,744 individuals. NBA correctly identified 520/608 carriers (85.5%). Of 89 missed calls, 73 had no matching probe and 16 had missing calls. 25 participants had false positive calls. NBA should not be used alone for clinical decisions, but is very useful for case control analysis.
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