Detection of de novo and homozygous copy number variants in 99 autism simplex trios. Homo sapiens

Comparison of whole genome exome array CGH to a commercial SNP array for detection of de novo and homozygous copy number variants in 99 autism simplex trios. Will update once manuscript is prepared. Overall design: Agilent custom designed array comparative genomic hybridization (CGH) was performed on 100 samples with a diagnosis of autism. Unaffected parents of the 100 probands were also tested. A common male reference was used for all samples and parents. Samples were obtained from the Simons Simplex Collection. Three samples (11154_P1, 11154_Mo, 11154_Fa) were removed from the final analysis for quality control.