Chunk #23 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — The distribution of de novo CNVs in probands, supports marked locus heterogeneity
We then evaluated the implications of this likely genomic architecture for the planned second phase of genotyping and CNV analysis in the SSC, which is currently underway. We used the estimated number of predicted ASD loci to guide a simulation experiment (supplementary methods) and found that the most likely outcome of a second SSC cohort of similar composition and size to that reported here will be further confirmation of 7q11.23 and 16p11.2 and the identification of 2-3 additional regions of significant association. These were most likely to emerge at the intervals already identified containing recurrent de novo events in phase 1, namely 1q21.1, 15q13.2-13.3, 16p13.2, and the CDH13 locus.
