Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation
Figure 4
Phenotypic profile comparison and phenotype promotion.
Multiple EQ descriptions annotated to a genotype comprise a phenotypic profile, and these profiles can be compared using subsumption logic. Phenotypes annotated to genotypes are propagated to their allele(s), and in turn to the gene, indicated with upward arrows. Similarity is analyzed between any two nodes of the same type, such as between gene A-vs-B, allele A3-vs-B1, genotypes A1/A1-vs-A3/A3, or A3/A3-vs-B1/B1. Genotypes are shown as rounded boxes, alleles as circles, and genes as squares. The phenotypic profile of genotype A1/A1 is detailed in purple, genotype A3/A3 in blue, and B1/B1 in red. The common subsuming phenotypes between A1/A1-vs-A3/A3 and gene A-vs-B are itemized in white boxes. Arrows between the original phenotypic descriptions and their common subsuming phenotypic description are indicated. Some individual phenotypic descriptions can have two common subsumers. For each phenotypic description (EQ), the calculated IC is shown. When comparing two items, four scores are determined: maxIC, the maximum IC score for the common subsuming EQ, which may be a direct (in the case of A1/A1-vs-A3/A3) or inferred (in the case of gene A-vs-gene B) phenotype, circled in red; avgICCS, the average of all common subsuming IC scores; simIC, the similarity score which computes the ratio of the sum of IC values for EQ descriptions (including subsuming descriptions) held in common (intersection) to that of the total set (union); simJ, non-IC-based similarity score calculated with the Jaccard algorithm which is the ratio of the count of all nodes in common to nodes not in common. These scores are also indicated for the comparisons between alleles A3-vs-B1 and A3/A3-vs-B1/B1, although the full profile is not being shown.