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What you can get and what would be missed: a side by side comparison of panels vs exome testing for Neurodevelopmental disorders

Session:
#620
Date:
Friday, Apr 13, 2018 10:30am – 12:00pm
Conference:
ACMG 2018
Authors:
Elaine C. Weltmer, Heather Newman, Jing Wang, Kirsten Blanco, Sha Tang, Zöe Powis
  • While MGP provides low cost, targeting to high yield genes, DES has a unique advantage of analyzing a much broader gene list.
  • DES achieved molecular diagnosis in additional 9 (8%) of patients who first underwent MGP testing.
  • Higher NGS coverage in MGP allows for the detection of gross deletions and duplications, and some complex rearrangements.
Abstract Poster