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Chunk #9 — Results — Tagged CNVs (tCNVs) are enriched for eQTLs and cis-acting eQTLs

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A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
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Using Gene Ontology (GO) enrichment [11], we found the target genes of these expression associated CNVs (eCNVs) to show a highly significant overrepresentation for certain biological processes including immune response (p = 2.3e-4, adjusted p-value 0.034) and regulation of apoptosis (p = 8e-6, adjusted p-value 0.015). Relative to other genic CNVs, the observation on the enrichment of the target genes of eCNVs for response to stimuli continues to hold (p = 9.9e-3, adjusted p-value 0.05).