Article
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Genome medicine - 30 May 2017
Bowling Kevin M, Thompson Michelle L, Amaral Michelle D, Finnila Candice R, Hiatt Susan M, Engel Krysta L, Cochran J Nicholas, Brothers Kyle B, East Kelly M, Gray David E, Kelley Whitley V, Lamb Neil E, Lose Edward J, Rich Carla A, Simmons Shirley, Whittle Jana S, Weaver Benjamin T, Nesmith Amy S, Myers Richard M, Barsh Gregory S, Bebin E Martina, Cooper Gregory M
Abstract excerpt
BACKGROUND: Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. METHODS: Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected). RESULTS:...
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