Abstract 3981: Evaluation of mutation detection sensitivity in exome sequencing and other genotyping platforms

Abstract An evaluation was performed to compare mutation calls from exome capture sequencing data to publicly available data sets derived from Sequenom MassARRAY and Sanger sequencing methods. We compared hot-spots KRAS and BRAF mutations using Sanger sequencing method in patient-derived tumor grafts. Mutation data of the tumor grafts were also generated with Sequenom MassARRAY using the OncoCarta panel. We also evaluated the sensitivity of mutation detection for a panel of cancer genes in >100 cancer cell lines against the data from the Cancer Cell Line Encyclopedia Project (OncoMap mutation panel) as well as the Sanger's Cancer Genome Project. Overall, we observed high sensitivity and concordance of the mutation calls from the exome sequencing with the other platforms and technologies. The above comparisons support the use of exome sequencing as a sensitive mutation detection method for patient-derived tumor grafts and cancer cell lines. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 3981. doi:1538-7445.AM2012-3981