FIGURE 1:

The clinician interface for GenomeDiver. HPO terms can be added in the ‘Add Phenotype Feature’ field by entering text which will bring up a list of HPO terms from which the appropriate term can be chosen. The HPO terms generated by GenomeDiver are shown in the ‘Classify all phenotype features’ section. These can be dragged into each of the categories underneath, ‘Present’, ‘Absent’ or ‘Unknown’. Three terms have been moved into the ‘Present’ category as an example.