Using Semantic Web Technologies to Build a Community-Driven Knowledge Curation Platform for the Skeletal Dysplasia Domain

In this paper we report on our on-going efforts in building SKELETOME – a community-driven knowledge curation platform for the skeletal dysplasia domain. SKELETOME introduces an ontologydriven knowledge engineering cycle that supports the continuous evolution of the domain knowledge. Newly submitted, undiagnosed patient cases undergo a collaborative diagnosis process that transforms them into well-structured case studies, classified, linked and discoverable based on their likely diagnosis(es). The paper presents the community requirements driving the design of the platform, the underlying implementation details and the results of a preliminary usability study. Because SKELETOME is built on Drupal 7, we discuss the limitations of some of its embedded Semantic Web components and describe a set of new modules, developed to handle these limitations (which will soon be released as open source to the community).