Analysis of differences in detection rates between parent-proband trios and non-parent-trios in Diagnostic Exome Sequencing

Date:
Thursday, Sep 14, 2017 5:45pm – 7:00pm
Conference:
NSGC 2017
Authors:
Christian Gund, Kelly Farwell Hagman, Sha Tang, Zöe Powis
  • There was a significant difference in the chance to receive a Positive or Likely Positive between parent-proband-trios and non-partent-trios cases
  • There was a significant difference in the chance to receive a Candidate or Suspected Candidate between parent-proband-trios and non-partent-trios cases
  • There was a significant difference in the chance to receive a Positive or Likely Positive trios with at least one affected parent and those without.