Dr. Sarah Murray, Director, University of California San Diego, presents the ultimate goal for many clinical laboratories is to accurately call CNVs, regions of AOH/LOH, and sequence variants from a single assay. The goal of the study was to see if reliable CNV and LOH calling can be achieved from the single NGS assay. N_xClinical software was used to analyze a 397-gene solid tumor panel and the results were compared to FFPE data analyzed via the OncoScan assay. Using several cases, it was demonstrated that reliable CNV calling from BAM files, integration of annotated VCF for sequence variants, and combined analysis in a single interface facilitates the interpretation process via N_xClinical software.

 

Want to learn more?

Check out our webinar recording relating to curated CNVs for improved, efficient, and more accurate analysis using TCGA Premier.

View webinar recording →