Fig. 2From: Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for cliniciansGene discovery display. This display shows gene zygosities not associated with any published genetic condition. In the case shown here, only 2 discovery gene candidates were found, ranked by severity score (no pertinence metric is possible for gene zygosities with no known clinical phenotype). The PPIL1 gene (biallelic) variants were reported as causativeBack to article page