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 N_xClinical software to analyse copy number variants (CNVs). 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

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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.