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.

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