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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

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

Fig. 3

Pertinence values for positives and negatives. Positives are the 66 cases in which the correct (reported) gene was #1 in the genome-phenome analysis output (e.g., Fig. 1); in 67% of these, pertinence was 100.0. Negatives are the 15 cases in which the correct gene was not ranked # in the genome-phenome analysis (11 in which it was in the gene discovery display (e.g., Fig. 2) and 4 in which it was in the genome-phenome analysis output by not ranked #1)

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