Dr. Sarah Murray
Director of Genomics Technologies
University of California San Diego
The gold standard for deriving accurate copy number variants (CNVs) and regions of absence/loss of heterozygosity (AOH/LOH) has been DNA microarray data. Sequence variants have been derived from a separate assay, i.e., by using next-generation sequencing (NGS). The ultimate goal for many clinical laboratories is to accurately call CNVs, regions of AOH/LOH, and sequence variants from a single assay.
Using NxClinical software to analyze a 397-gene solid tumor panel, she will show
- CNV and LOH calling from BAM files
- Integration of annotated VCF for sequence variants
- How combined analysis in a single interface facilitates the interpretation process
Using several example cases, she will show the value of an integrated analysis of CNV, LOH, and sequence variants from a single assay.
Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation in a cytogenetics or molecular genetics lab.