Fig. 8

Validation of CNV/CNA using real-time qPCR. Bar charts of CN estimates in six genomic regions are displayed. The bar chart for each genomic region contains five bars, which show the mean CN estimate in the reference sample (“Ref,” white open bar), the pure corresponding blood sample (“0,” right hatched bar), admixed sample of 10 % (“10,” vertical hatched bar), admixed sample of 50 % (“50,” left hatched bar), and the pure cancer cell line sample (“100,” horizontal hatched bar). An error bar represents 1 se of the mean CN estimate. The value of the mean (se) CN estimate is indicated on the top of each bar. The vertical axis represents the value of CN estimate. The index and chromosome of each genomic region are labeled at the bottom of the bar chart, followed by the physical positions of the qPCR primer (labeled as “qPCR primer”) and CNV/CNA region detected using ALICE (labeled as “ALICE”). The starting and ending positions are the first and second elements enclosed in a square bracket. For example, the starting and ending positions of the qPCR primer of the first region are 128,548,712 and 128,548,812 bp. The detection results obtained using GTC (“GTC”), unpaired analysis in ALICE [“ALICE (U)”], and paired analysis in ALICE [“ALICE (P)”] and the type of CNVs/CNAs are labeled at the top of the bar chart