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Chunk #13 — Materials and Methods — Determination of allelic mRNA expression imbalance (AEI)

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Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry.
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Allelic expression for each cDNA sample was normalized against the overall average ratio obtained for gDNA from each run. Subjects with greater than 2-fold difference in relative ASE (cDNA allelic expression/gDNA allelic expression) possess allelic expression imbalance (AEI). To verify our AEI determination threshold was accurate, we applied the Davies-Bouldin (DB) validity index [29]. The lowest values of the index reflect that within a bin the measurements are more similar to each other than the measurements in the other bins [29].