Figure 1
The pre- and post-twinning de novo CNVs. Each plot shows LRR (vertical bars) and BAF (solid points). The LRR and BAF are shown in color in the region of the CNV (red and blue, respectively) and in black in the flanking regions. The actual deletion/duplication is highlighted by a gray rectangle, whereas a CN call of 2 is highlighted by a dashed rectangle. (a) Depicts the region of the pre-twinning de novo duplication in family 34 for both parents and both twins (both unaffected for AP). The duplication is mainly characterized by an increase in LRR in the twins compared with the parents. The clustering of BAF does not show striking differences between the twins and the parents, most likely because there are relatively few SNP probes in this region (CN probes do not have BAF values). (b) Shows the region of the post-twinning deletion in family 5 for both twins (both affected with AP). The deletion is characterized by a decrease in LRR and an altered clustering of BAF, only seen in twin 1 (the oldest twin). (c) shows the region of the possible post-twinning duplication in family 33 for both twins (discordant), where twin 2 is affected with AP. Although both calling algorithms called a de novo duplication, the LRR and BAF values do not show striking differences when inspected visually, which is why extra qPCR experiments were conducted for this region.
