A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.

Restricting our focus to eQTLs that regulate transcript levels in cis (defined as within 4 MB of target transcript), we observed a highly significant cis eQTL enrichment (p<0.001) from a simulation procedure ( N = 1000) used to empirically generate the null distribution using randomly generated sets of variants of the same set size and matching minor allele frequency distribution as the SNPs tagging CNVs (see Materials and Methods ).

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