Towards improving phenotype representation in OWL.

ABSTRACT:

Background

Phenotype ontologies are used in species-specific databases for the annotation of mutagenesis experiments and to characterize human diseases. The Entity-Quality (EQ) formalism is a means to describe complex phenotypes based on one or more affected entities and a quality. EQ-based definitions have been developed for many phenotype ontologies, including the Human and Mammalian Phenotype ontologies.

Methods

We analyze formalizations of complex phenotype descriptions in the Web Ontology Language (OWL) that are based on the EQ model, identify several representational challenges and analyze potential solutions to address these challenges.

Results

In particular, we suggest a novel, role-based approach to represent relational qualities such as concentration of iron

SUBMITTER: Loebe F 

PROVIDER: S-EPMC3448528 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature