Figure 4.

Single-exon PKD2 deletion detected with whole-genome sequencing. A 5461 bp base deletion, which overlaps exon 3 of PKD2. Three lines of evidence support the heterozygous deletion: the reduction in read depth to ~50% of the surrounding regions; the presence of three spanning read pairs where each read aligned to either side of the deletion; and the presence of four split reads, where the start and end of the sequencing reads are on either side of the breakpoint.