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Chunk #20 — Discussion

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A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
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SNPs. While the tagged CNVs are particularly easy to investigate in enrichment studies, we found that the proportion of eQTLs (at p value threshold of 10−4) in the non-WTCCC CNVs (39%) is higher than in the well-tagged WTCCC CNVs (30%). Given these strong findings on the functional relevance of CNVs, we created a comprehensive online resource of expression associated CNVs in the HapMap populations to supplement our earlier studies on SNP eQTLs.