Session # 1537W

Hitting the target: An analysis of noncoding alterations as captured by panels and diagnostic exome sequencing at a commercial lab

• Panels detect more variants in the promoter region and deep intronic regions compared to DES.
• Of variants called VLP/MUT on panel, DES had adequate coverage of 96%.
• Panels may provide more information, however they may also yield less clinically actionable results than DES.

• Authors: Brian Schoenfeld; Meghan Towne; Holly LaDuca; Patrick Reineke; Huy Vuong; Sha Tang
• Conference: ASHG 2017
• Date: Wednesday, Oct 18, 2017 3:00pm - 4:00pm