Figure 2.
Illustration of the event-wise testing (EWT) method for detecting CNVs based on depth of coverage. Panel A illustrates the read depth by 100-bp window for a 15-kb (150 windows) genomic region in sample NA12891, where a 4.9-kb (49 windows) deletion was detected (chr1:157,227,901–157,232,800). The heatmap in B illustrates test results for all 100-bp windows of this region for each of the 19 event types (i.e., size 2, 3, 4,…, up to size 20) for deletion. The y-axis is event size (l). An orange dot represents a significant test result for an l-sized event, and a blue dot represents a nonsignificant test result.
