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Chunk #11 — Materials and methods — Further analysis of SNPs, haplotypes and genetic linkage

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Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver.
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Information on SNPs was obtained from the dbSNP database37 (http://preview.ncbi.nlm.nih.gov/snp). Polymorphisms occurring in an eQTL were tested for pairwise linkage to SNPs in the neighborhood by tagging specific blocks of genetic linkage using Haploview38 (V4.2, HapMap V3R2) or SNAP39 (http://www.broadinstitute.org/mpg/snap; using HapMap release 22 and 1000 genomes Pilot1) for CEU samples each. Pairwise r2 was used as measure for linkage disequilibrium (LD). The genomic regions of trait genes were screened for previously described copy number variations using the genome variation database from the Center of Applied Genomics (http://projects.tcag.ca/variation/).