Chunk #43 — Results — Expanded analysis of rare de novo CNVs across multiple ASD samples — An analysis of de novo CNVs in 3,816 probands from genome-wide studies of idiopathic ASD supports association of 6 genomic intervals
Our approach to assessing the genome-wide significance of rare recurrent de novo CNVs allows for a statistical evaluation of events observed in cases without requiring additional matched control samples. Consequently, we were able to conduct a cumulative analysis across multiple studies in search of additional associated ASD loci. We included 4 other large-scale ASD CNV studies (Itsara et al., 2010; Marshall et al., 2008; Pinto et al., 2010; Sebat et al., 2007) meeting 4 criteria: standardized diagnosis, genome-wide detection, confirmed de novo structural variations, and sufficient information to permit the identification of duplicate samples.
