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Chunk #51 — Results — Copy Number Variation — Analysis of pathways affected by gene-disrupting CNVs in cases and controls

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A genome-wide investigation of SNPs and CNVs in schizophrenia.
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After finding an excess of rare gene-disrupting CNVs greater than 100 kb in their schizophrenia patients, Walsh et al. [21] went on to investigate the genes using the Ingenuity Pathway Analysis (IPA) classification system to check in cases for an excess of disrupted genes from any particular functionally defined molecular pathway. They found a significant over-representation of genes in pathways important for brain development. We performed the same analysis on the genes that were disrupted by rare CNVs greater than 100 kb in our cohorts (Table S3). We did not find a strong overlap with the pathways enriched in Walsh et al. [21], nor did we find common pathways disrupted in cases across the three cohorts we examined.