Target Counts Dropout Regions
In the WGS case where a BED file is not specified for a given reference, the same intervals should be generated each time. The intervals created take into account the mappability of the reference genome using a k-mer uniqueness map created during hashtable generation. A dropout region is a complex region that does not count alignments and results in an interval missing from the analysis. Dropout regions include centromeres, telomeres, and low complexity regions. If there is sufficient signal in the flanking regions, an event can still span these dropout regions, even if alignment counting does not occur in the regions. The event is handled by the segmentation stage.