HPO-based prioritization. (A) HPO profile of a case with BSS encoded as a graph. Note atypical presence of hearing impairment, which is likely unrelated to the BSS. The plot beneath the graph shows the similarities between the patient profile and each gene in which the case has a candidate variant. The profile of GP1BB is the most similar out of the 4 genes with candidate variants. (B) For each of the 109 HPO-coded cases for which a causative variant was assigned by the MDT, the similarity is shown between the case profile and the profiles of the genes in which the case has a candidate variant. The similarity to the gene containing the variant(s) determined to be pathogenic or likely pathogenic in each case (red circles) and the similarity to other genes containing VUS (gray dashes) are shown. Case index 1 corresponds to the BSS case shown in (A).