Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

ABSTRACT: The differential diagnostic process attempts to identify candidate diseases that best explain a set of clinical features. This process can be complicated by the fact that the features can have varying degrees of specificity, as well as by the presence of features unrelated to the disease itself. Depending on the experience of the physician and the availability of laboratory tests, clinical abnormalities may be described in greater or lesser detail. We have adapted semantic similarity metrics to measure phenotypic similarity between queries and hereditary diseases annotated with the use of the Human Phenotype Ontology (HPO) and have developed a statistical model to assign p values to the resulting similarity scores, which can be used to rank the candidate diseases. We show that our approach

SUBMITTER: Kohler S 

PROVIDER: S-EPMC2756558 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature