Chunk #12 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Rare, de novo, genic CNVs are over-represented in simplex probands
Rare de novo CNVs were significantly more common among probands than siblings. Overall 5.8% of probands (N=51 out of 872) had at least one rare de novo CNV compared with 1.7% of their unaffected siblings (N=15 out of 872) yielding an odds ratio (OR) of 3.55 (CI =2.16-7.46, p=6.9 × 10−6, Fisher's exact test) (Table 1 and Figure 2). When we considered the proportion of individuals carrying at least one rare de novo CNV that also contains known genes (genic CNVs), the OR increased to 4.02 (50 in probands vs. 12 in siblings; CI =1.98-6.36, p=2 × 10−6). These results remained consistent regardless of whether we analyzed total numbers of CNVs as opposed to the proportion of individuals with at least one (Figure 2), or increased the stringency of the threshold for “rarity” (supplementary materials).
