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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

Fig. 2

Gene 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 causative

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