Rapid and Inexpensive Screening of Genomic Copy Number Variations Using a Novel Quantitative Fluorescent PCR Method
Figure 2
Performance of MQF-PCR in detection of various CNVs. Interactive dot diagrams of ROC curve analysis of Z-score statistics in WAGR (a), Smith-Magenis (b), Potocki-Lupski (c), and Xp22.3 deletion detection (d). The MQF-PCR primers achieved 100% detection sensitivity and 100% detection specificity. Box-and-Whisker plot of Z-score statistics obtained for Langer-Giedion (e), Greig cephalolysyndactyly (f), Miller-Dieker lissencephaly (g), and Saethre-Chotzen (h) microdeletion syndromes. Positive samples (full circle) are shown as outliers. In all panels, the number of controls and patients analyzed is given.
