Figure 2A. Initial evidence in whole exome sequencing of a 3 basepair deletion in RSPH9.
A single molecular read (upper panel) showing a deletion was observed (horizontal thin line adjacent to thedotted lines flanking the base centred in the viewing panel). Compared with a control (lower panel), there was also a deficiency of mapped reads at this location. The wildtype sequence shows a microrepeat 5′-GAAGAA.