Chunk #11 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Rare, de novo, genic CNVs are over-represented in simplex probands
In light of strong prior evidence for an increased burden of de novo CNVS in simplex autism (Itsara et al., 2010; Marshall et al., 2008; Pinto et al., 2010; Sebat et al., 2007), we investigated these events in probands versus their unaffected siblings in all 872 quartets in this study (Figure 1). A total of 28,610 rare, high-confidence CNVs were identified; 97 were classified as rare and likely de novo, and 83 events were confirmed to be rare de novo CNVs by qPCR in whole-blood DNA (Table S4).
