The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.
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ABSTRACT:
SUBMITTER: Harripaul R
PROVIDER: S-EPMC5334248 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
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The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.
Harripaul Ricardo R Noor Abdul A Ayub Muhammad M Vincent John B JB
Cold Spring Harbor perspectives in medicine 20170301 3
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 ...[more]
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