Exome & General Genetics/Oncology

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

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