title: The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.
abstract: Genetic or genomic mutation is a major cause of intellectual disability (ID). However, despite the generally anticipated strong genotype/phenotype correlation for ID, there are huge obstacles to gene identification, except perhaps where very distinct syndromic features are observed, because of the high degree of genetic heterogeneity and wide variability of phenotype for different mutations or even with the same mutation within a single gene. A recent review estimates in excess of 2500 genes for ID. Fortunately for researchers and diagnosticians alike, the recent advent of massively parallel sequencing technologies, or next-generation sequencing (NGS) has made an apparently impossible task tractable. Here, we review the ongoing research endeavors to identify new disease genes, as well as strategies and approaches at the clinical level.
authors.affiliation: Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario M5T 1R8, Canada.|Institute of Medical Science, University of Toronto, Toronto, Ontario M5T 1R8, Canada.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Harripaul
authors.affiliation: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario M5G 1Z5, Canada.|Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario M5G 1Z5, Canada.
authors.forename: Abdul
authors.initials: A
authors.lastname: Noor
authors.affiliation: Department of Psychiatry, Queen's University, Kingston, Ontario K7L 7X3, Canada.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ayub
authors.affiliation: Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario M5T 1R8, Canada.|Institute of Medical Science, University of Toronto, Toronto, Ontario M5T 1R8, Canada.|Department of Psychiatry, University of Toronto, Toronto, Ontario M5T 1R8, Canada.
authors.forename: John B
authors.initials: JB
authors.lastname: Vincent
mesh_terms: D018740:Genetic Heterogeneity; D059014:High-Throughput Nucleotide Sequencing / Q000639:trends*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype