Figure 6.

Screen capture for whole genome sequencing read depth and read alignments using Integrated Genome Viewer (IGV) for the five affected individuals of family A centered at genome position chr2:179,118,837 (red/blue). Read depths (lines) are scaled in a range of 0–200 for all five individuals. Red cross-lines denote variant reads; the rare variant is present in some but not all reads, indicating heterozygosity.