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Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.

Aniko SaboDavid MurdockShannon DuganQingchang MengMarie-Claude GingrasJianhong HuDonna MuznyRichard A Gibbs
Published in: Molecular genetics & genomic medicine (2020)
Our study suggests high yield of exome sequencing as a diagnostic tool in adult patients with ID who have not undergone comprehensive sequencing-based genetic testing. Research studies including an option of return of results through a genetic clinic could help minimize the disparity in exome diagnostic testing between pediatric and adult patients with ID.
Keyphrases
  • intellectual disability
  • copy number
  • single cell
  • autism spectrum disorder
  • primary care
  • gene expression
  • dna methylation