Autism genome-wide copy number variation reveals ubiquitin and neuronal genes (original) (raw)

with complex genetic origins 1-4 . Previous studies focusing on candidate genes or genomic regions have identified several copy number variations (CNVs) that are associated with increased risk of ASDs 5-9 . In an attempt to comprehensively identify CNVs conferring susceptibility to ASDs, we performed a whole-genome CNV study on a cohort of 859 ASD cases and 1,409 healthy children of European ancestry who were genotyped with ~550,000 SNP markers. Positive findings were evaluated in an independent cohort of 1,336 ASD cases and 1,110 controls of European ancestry.