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For both methods, we performed oblique rotation using the clinical factor and the first two PCs (Additional file 1, Figures S1 ~ S4).
Given the high concordance across both methods, we performed imputation using a 1000 Genomes variant set alone, without implementing a two panel imputation.
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Patients and Methods: We performed a retrospective chart review.
To validate the accuracy of the allele-specific real-time PCR genotyping method, we performed both PCR-direct sequencing and allele-specific real-time PCR using DNA samples from 244 patients who were treated with azathioprine or mercaptopurine.
In order to assess the sensitivity of our method we performed two independent experiments.
We observed that both methods performed well, but we note that CNVassoc has a number of important advantages over CNVtools in terms of computational speed and robustness in situations of limited sample sizes.
Both methods were performed according to the manufacturer's instructions.
Both methods are performed during mouth breathing or breathholding.
Both methods were performed following the manufacturers' instructions.
Both methods performed well on our data.
Thus, on average both methods performed equally well when judged by the uniformity of the coverage.
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