OCT 01, 2015 9:00 AM PDT

RNA-editing in melanoma - Case for a sensitive analysis and interpretation platform for the resolution of a diverse molecular process and likely pathogenic variants

Speaker

Abstract

Of special interest in a clinical setting is the identification and interpretation of somatic variants from the DNA of a tumor/normal matched pair. Studies have shown that a large proportion of variants present in DNA are not present in the RNA and vice versa due to RNA-Editing - a process that displays great molecular diversity, and other unknown molecular processes. In addition, recent publications show that RNA-editing plays an important role in cancer. These findings can have strong implications for clinical diagnostics where the correct identification and interpretation of somatic variants from tumor/normal matched samples is essential. In this webinar, we will show how the application of an integrated NGS analysis to interpretation workflow (Biomedical Genomics Workbench and Ingenuity Variant Analysis) resulted in the discovery of RNA-editing in two patients associated melanoma that were classified as likely pathogenic. Dr. Joecker will guide you through the analysis, which features an evaluation of published Whole Transcriptome/Whole Exome datasets of tumor and peripheral blood from two patients with uveal melanomas.


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OCT 01, 2015 9:00 AM PDT

RNA-editing in melanoma - Case for a sensitive analysis and interpretation platform for the resolution of a diverse molecular process and likely pathogenic variants



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