Chunk #39 — Results — Analysis of rare transmitted CNVs in the SSC — Rare transmitted CNVs show greater biological coherence in probands versus siblings
We used two gene ontology and pathway analysis tools, MetaCore from GeneGo Inc. and DAVID (Dennis et al., 2003; Huang et al., 2009), to analyze 1,516 genes within CNVs exclusive to probands and 1,357 genes exclusive to siblings. The total number and size of rare, transmitted CNVs used to determine these gene sets were highly similar in probands and siblings (Figure 5). GeneGo Networks identified 22 pathways showing significant enrichment in probands versus only 4 enriched pathways among siblings. This difference was significant based on 100 permutations of the dataset (p=0.04). DAVID yielded consistent results with 59 pathways enriched in probands and 19 in siblings (p=0.01, permutation analysis) (Figure 6).
