Chunk #25 — Materials and Methods — CNP Genotyping and Quality Control

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Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population.

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To assess the accuracy of the result of PlatinumCNV, we randomly selected 445 and 759 subjects from the GWAS and replication sets, respectively. The copy number for each individual from the TaqMan Assay was compared with the maximum a posteriori (MAP) genotype (see [8] for details) obtained using the PlatinumCNV, and the concordance rate was calculated for each of the five CNP markers at the CYP2A6 locus (Table S4).