Article
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.
Molecular psychiatry - 1 Oct 2013
Moreno-De-Luca D, Sanders S J, Willsey A J, Mulle J G, Lowe J K, Geschwind D H, State M W, Martin C L, Ledbetter D H
Abstract excerpt
Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders (ASD), and several of these have reached statistical significance in case-control analyses. Nevertheless, current ASD cohorts are not large enough to detect very rare CNVs that may be causative or contributory (that is, risk alleles). Here, we use a tiered approach, in which clinically significant CNVs are first identified...
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