The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability

Ricardo Harripaul, Abdul Noor, Muhammad Ayub, John B. Vincent
2017 Cold Spring Harbor Perspectives in Medicine  
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
more » ... 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.
doi:10.1101/cshperspect.a026864 pmid:28250017 fatcat:p2eoimmomrcybebjwjmddflb4i