Segmental Copy Number Variant Detection Using an Amplicon-based NGS Panel for Integrated Glioma Classification

Next-generation sequencing (NGS) is a first-tier test in molecular oncology, capable of detecting sequence variants (SVs) and copy number variants (CNVs). Although most amplicon-based gene panels are not designed to detect segmental chromosomal CNVs, they can still be inferred. This study describes a custom analysis for CNV detection using the amplicon-based Oncomine Comprehensive Assay v3 (OCAv3), for critical glioma biomarkers 1p/19q co-deletion, +7/–10, EGFR amplification and CDKN2A/B homozygous deletion.