Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation with whole exome sequencing (WES) in a cytogenetics or molecular genetics lab.
Dr. Elan Hahn
University of Toronto
Anatomical Pathology resident
Dr. Elan Hahn discusses how the team at Children's Hospital of Los Angeles (CHLA) studied WES data and moved it one step further by implementing the use of BioDiscovery's NxClinical software to add copy number variation (CNV) analysis. This simple workflow addition allowed them to resolve ~9% of previously undiagnosed Mendelian conditions that had not been originally identified by WES, and in some cases chromosomal microarray.
In this 30 minute webinar Dr. Hahn:
- Reviews select WES cases
- Highlights the addition of CNV data
- Discusses resulting workflow changes