Using Large Clinical Data Sets to Infer Pathogenicity for Rare Copy Number Variants in Autism Cohorts

Published October 9, 2012 in Molecular Psychiatry

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 casecontrol analyses. Nevertheless, current ASD cohorts are not large enough to detect very rare CNVs that may be causative or contributory (that is, risk alleles).

http://www.nature.com/mp/journal/vaop/ncurrent/full/mp2012138a.html

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