Title: The Complexity of Genomic Structural Variation in Neurodevelopmental Disorders
Abstract: Interest in—and understanding of the importance of—de novo structural variation in the human genome has increased alongside the accessibility of the technologies capable of identifying it. Copy number variation (CNV) is a catch-all term for sections of the genome ranging from 1 kb to many megabases, which vary in cardinality between individual genomes. Although CNVs are now a particularly well-studied form of structural variation, understanding of the impact of such variants on phenotype is still nascent, especially when compared with understudying of the phenotypic effects of some classes of single nucleotide polymorphisms. The Penetrance of Copy Number Variations for Schizophrenia and Developmental DelayBiological PsychiatryVol. 75Issue 5PreviewSeveral recurrent copy number variants (CNVs) have been shown to increase the risk of developing schizophrenia (SCZ), developmental delay (DD), autism spectrum disorders (ASD), and various congenital malformations (CM). Their penetrance for SCZ has been estimated to be modest. However, comparisons between their penetrance for SCZ or DD/ASD/CM, or estimates of the total penetrance for any of these disorders have not yet been made. Full-Text PDF Open Access
Publication Year: 2013
Publication Date: 2013-12-18
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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