The detection of clinically relevant cancer mutations using a high depth, augmented, comprehensive cancer gene panel.

e12547 Background: Genetic testing is an increasingly accepted form of molecular testing in cancer. Specific genetic lesions can determine prognosis and have diagnostic value, assisting in therapeutic decisions. Next-generation sequencing facilitates the detection of a wide array of somatic mutations, copy number alterations (CNAs), and gene fusions all in a single assay. With increased sequencing depth, mutations present in only a fraction of the neoplastic tissue can be identified. Detection of these mutations after sequencing DNA and RNA involves a complex set of variant detection algorithms tailored specifically for cancer analysis. Methods: We designed a comprehensive cancer panel using an augmented target enrichment strategy optimized for even coverage across the entire span of gene content. This approach includes multiple nucleic acid enrichments to deal with high-GC content and includes custom oligonucleotides designed to compensate for challenging regions. The panel includes over 1,200 cancer-rel...