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

Session:
#1537
Date:
Wednesday, Oct 18, 2017 3:00pm – 4:00pm
Conference:
ASHG 2017
Authors:
Brian Schoenfeld, Holly Laduca, Huy Vuong, Meghan Towne, Patrick Reineke, Sha Tang
  • 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.
Abstract Poster