A Robust Approach to Identifying Tissue-Specific Gene Expression Regulatory Variants Using Personalized Human Induced Pluripotent Stem Cells
The 186 expression SNPs were then normalized to reduce both genotyping and probe-specific biases. First, direct allelic ratios from the cDNA were normalized by those from the genomic DNA. Second, we calculated the mean ASE ratio across all samples derived from each individual and used the distance from the mean for hierarchical clustering. The normalized ASE predicted the sample relationship and the tissue-specificity with high accuracy, confirming the presence of tissue-specific regulatory expression variants.