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Parental variant study is informative for variant classification in significant number of neurodevelopment genes

Session:
#2471
Date:
Thursday, Oct 19, 2017 2:00pm – 3:00pm
Conference:
ASHG 2017
Authors:
Elaine C. Weltmer, Heather Newman, Jade Tinker, Jing Wang, Lucia Guidugli, Negar Ghahramani, Rhonda Lassiter, Shoji Ichikawa, Tiffiney Carter, Tina Pesaran, MA, MS, CGC
  • Parental variant study (PVS) was informative for 45% of genes with VUS
  • PVS was most likely to be informative for genes associated with a well described syndrome, e.g., CHARGE, Kleefstra, Rubinstein-Taybi syndrome, or severe early-onset phenotype, e.g., infantile epileptic encephalopathy
  • PVS was least likely to be informative in genes with multiple inheritance patterns, incomplete penetrance, variable expressivity, or non-specific disease phenotype
Abstract Poster