Figure 1.

Polycystic kidney and liver disease cases YU331 and YU30 have significantly reduced exome sequencing read depth in regions of GANAB and SEC63, respectively. (a) Z-Score plots of normalized exome read depth for deletion calls made by XHMM overlaping polycystic liver disease (PCLD) genes. Comparison between cases YU331 (left panel) or YU30 (right panel) and the remainder of cases and controls sequenced with same capture reagent show significantly reduced read depth suggesting a deletion. (b) Absolute read depth plotted at each hg19 genomic position for YU331 on chr:11 (left panel) and YU30 on chr:6 (right panel). (c) Computed tomography scan showing liver cysts (∗) and a small number of kidney cysts (arrows) in YU331.