Fig. 7
From: Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine
Combination analysis indicates using more HPO terms lead to a higher chance of the correct prioritization. ‘High confidence’, where the known deletion has a normalized Phenolyzer score no less than 0.5; ‘Medium confidence’, where the known deletion has a normalized Phenolyzer score between 0.1 and 0.5; ‘Low confidence’, where the known deletion has a normalized Phenolyzer score less than 0.1