Share this post

Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation in a cytogenetics or molecular genetics lab.

Sarah Murray headshot

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.

The BAM MultiScale Reference (MSR) algorithm detects regions of copy number change and AOH/LOH directly from BAM files derived from NGS. The goal of our study was to see if reliable CNV and LOH calling can be achieved from the single NGS 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.