Article
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018
Thompson Michelle L, Finnila Candice R, Bowling Kevin M, Brothers Kyle B, Neu Matthew B, Amaral Michelle D, Hiatt Susan M, East Kelly M, Gray David E, Lawlor James M J, Kelley Whitley V, Lose Edward J, Rich Carla A, Simmons Shirley, Levy Shawn E, Myers Richard M, Barsh Gregory S, Bebin E Martina, Cooper Gregory M
Abstract excerpt
PURPOSE: Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability. METHODS: Exome/genome sequencing and analysis of 789 "unaffected" parents was performed. RESULTS: Pathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as...
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