Article
Clinical Validation of Somatic Mutation Detection by the OncoScan CNV Plus Assay.
The Journal of molecular diagnostics : JMD - 1 Jan 2021
Smith Scott C, Farooqi Midhat S, Gener Melissa A, Ginn Kevin, Joyce Julie M, Bendorf Tara M, Cooley Linda D
Abstract excerpt
The OncoScan CNV Plus Assay (OS+) is a single-nucleotide polymorphism microarray platform that can detect 74 hotspot somatic mutations (SMs) in nine genes via molecular inversion probes. We report validation of the SM component of OS+ using a cohort of pediatric high-grade brain tumor specimens. SM calls were generated from 46 brain tumor cases, most tested orthogonally via bidirectional Sanger sequencing. The...
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