Figure 3. Integrated Genomics Viewer (IGV) and Slinker visualisations of the RYR1 gene.

A. Slinker visualisations can show coverage (log scale) across the entire gene including events such as truncated exons (purple shading with adjacent drop in coverage), in a single, compact visualisation. Such a visualisation is desirable as users can consider the event in the greater context of the gene's expression. B. Integrative Genomics Viewer (IGV) Sashimi plot including the same case, controls, and transcripts as in A but not in the superTranscript format. Case is shown in purple and the controls in teal. The truncated exon is highlighted with the purple vertical line.