Article
Improved Variant Detection in Clinical Myeloid NGS Testing by Supplementing a Commercial Myeloid NGS Assay with Custom or Extended Data Filtering and Accessory Fragment Analysis.
Molecular diagnosis & therapy - 1 Mar 2021
Schejbel Lone, Novotny Guy Wayne, Breinholt Marie Fredslund, El Fassi Daniel, Schöllkopf Claudia, Hogdall Estrid, Nørgaard Peter
Abstract excerpt
BACKGROUND: Commercial myeloid next-generation sequencing (NGS) panels may facilitate uniform generation of raw data between laboratories. However, different strategies for data filtering and variant annotation may contribute to differences in variant detection and reporting. Here, we present how custom data filtering or the use of Oncomine extended data filtering improve detection of clinically relevant...
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