Next-Generation Sequencing in Intellectual Disability.
Next-generation sequencing technologies have revolutionized gene discovery in patients with intellectual disability (ID) and led to an unprecedented expansion in the number of genes implicated in this disorder. We discuss the strategies that have been used to identify these novel genes for both syndromic and nonsyndromic ID and highlight the phenotypic and genetic heterogeneity that underpin this condition. Finally, we discuss the future of defining the genetic etiology of ID, including the role of whole-genome sequencing, mosaicism, and the importance of diagnostic testing in ID.
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States.
Gemma L
GL
Carvill
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, United States.
Heather C
HC
Mefford
copy number variations; de novo mutations; intellectual disability; next generation sequencing