NGS Lessons in Translational Diagnostics

In this webinar, we will describe a comprehensive approach for NGS-based marker discovery and the successful migration of these markers to targeted NGS assays using low-quality (FFPE) and low-quantity (FFPE or FNA) tumor biopsies.  We will also discuss how these markers can be queried using a unified assay approach that reveals cancer-associated DNA and RNA variants from total nucleic acid.  Finally, we will share lessons learned from building high-performance, multi-modal cancer panels that incorporate functional nucleic acid quantification, highly multiplexed target enrichment, and versatile and complementary variant call pipelines. These methods can enable reliable detection and quantification of DNA mutations, expression markers, and RNA fusions across multiple disease pathways and cancer types to advance diagnostic, theranostic and prognostic applications, and support retrospective studies, clinical trial assays, and in vitro diagnostic products.

Objectives of webinar:

• Explain the relationship between functional DNA and RNA (QFI) from FFPE and FNA biopsies and NGS data interpretation
• Analyze the opportunities and challenges of mRNA and fusion biomarker discovery from RNA-Seq of FFPE and FNA specimens
• Describe the migration of expression and fusion biomarkers from whole transcriptome RNA-Seq to targeted RNA-Seq
• Summarize the benefits of a tandem DNA/RNA NGS cancer panel and integrated workflow for clinical oncology and drug development