Skip to main content
Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

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

Fig. 1

Genome-Phenome Analysis display including both SNV and CNV results. Display of gene zygosities that fit with the variants and affected status of all individuals used. Numbers to the left are severity scores for each zygosity (e.g., NBAS gene variants, biallelic, with “c” denoting compound heterozygote). Zygosities are not ranked by severity score; instead they are ranked by the pertinence metric, here 100% for biallelic GLDC gene variants (denoted by light green shading) and 0% for the other zygosities and chromosomal abnormalities shown that represent other possible genetic diagnoses but are much lower in pertinence. The pertinence metric depends on both the severity of the gene zygosity and the clinical findings entered for the proband. The GLDC and PRSS1 variants were derived from a deletion region and the NBAS variants were derived from SNPs. Clicking on the “Show the 1 GLDC variant” button shows a mini variant table with that one variant location and an explanation of how the severity score was determined for that variant (not shown here). The check marks denote variants that were found, using the convention used for all findings, where for example, @6 m for a clinical finding would denote that the clinician had entered that finding as having onset at 6 months of age (not shown here). The boxes between the check marks and the zygosities are used to denote the clinician’s choice of a gene zygosity to report as pathogenic (not used in this illustration)

Back to article page