A
B
Supplemental Figure 1. Results of Taqman assay that detects total copy number and RETINA that detects allelic ratio of target variants for 94 samples. Red diamond of each panel enclosed by red circles was same sample, In which results of Taqman assay and RETINA was not concordant. That is, (A) the sample is confidently called as having a copy number of 3, but the RETINA assay indicates allele ratios of 1:1, (B) the sample is confidently called as having a copy number of 4, but the RETINA assay indicates allele ratios of other than 1:0, 1:1, or 1:3, we regarded these combinations as anomalous, even if each assay gives clear information when considered individually. All samples were examined in quadruplicate in the Taqman assay and RETINA. The average copy number values were used in the scatter plot analysis of Taqman assay and all results were ploted in the allelic discrimination plot of PCR-RETINA.
