Figure 3.

CFTR copy number variant (CNV) detection in dried blood spot specimens. The results of three computational CNV prediction methods were integrated and plotted as the log2 ratio of observed versus expected read counts for each exon of each individual sample. Log2 ratios that significantly deviate from baseline are shaded in red if two consecutive exons show a difference in copy number, and in blue if a single exon/intron is affected. CNV results for the 51- and 48-sample sets are shown in A and B, respectively. No significant CNVs were detected in the 96-sample set.