Abstract 5076: Rapid assessment of AML genes for mutation detection and copy number variation

Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA Targeted sequencing using the Ion AmpliSeq™ Library kit combined with the Ion PGM™ sequencing instrument is a fast and effective method to identify genetic variants in cancer samples. A new targeted primer panel for amplification of genes involved in Acute Myeloid Leukemia (AML) has been developed by Life Technologies. The panel covers 19 genes characterized using over 300 specific primer pairs in two highly multiplexed PCRs. To demonstrate the coverage efficiency, we evaluated libraries prepared from whole blood and isolated genomic DNA. When libraries from 4 individuals were run on a single Ion 318™ Chip, the average coverage depth was >3000x, with >97% of the target bases covered >500X. Additionally, >90% of reads were on-target. The panel was tested on control samples and analyzed using the Ion Reporter™ Software, and expected variants, including copy number variations (CNVs) were detected with high sensitivity and specificity. Citation Format: Mark Andersen, Kate Rhodes, Steve Roman, Cristina VanLoy, Adam Broomer, Michael Allen, Denise Topacio, Guoying Liu, Fiona Hyland. Rapid assessment of AML genes for mutation detection and copy number variation. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 5076. doi:10.1158/1538-7445.AM2014-5076