Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation

In PLoS Biology this week, scientists led by Nicole Washington at Lawrence Berkeley National Laboratory and Melissa Haendel at the University of Oregon tested the hypothesis that "ontological annotation of disease phenotypes will facilitate the discovery of new genotype-phenotype relationships within and across species." Using a novel Entity-Quality methodology, they compared gene-linked disease phenotypes among model organisms, including zebrafish, and found that they could "identify, through the similarity of the recorded phenotypes, other alleles of the same gene, other members of a signaling pathway, and orthologous genes and pathway members across species" that could be involved in the disease. More>