Chunk #14 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Rare, de novo, genic CNVs are over-represented in simplex probands
This burden of rare de novo CNVs in simplex families is remarkably similar to previously published results (Table S1) despite varying CNV discovery approaches and array densities from 85,000 (Sebat et al., 2007) to 1 million probes (Pinto et al., 2010). We reasoned that this was likely due to the particular importance of large de novo events, as their detection would be least sensitive to differences in probe number and distribution. Indeed, we found that rare de novo CNVs in probands tended to be larger than in siblings (mean 1.6Mb vs. 0.7Mb) (Figure 2, Figure S2) and to include a greater number of genes (16-fold increase in probands, and a 29-fold increase considering only deletions).
