Article
Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain.
Journal of biomedical informatics - 1 Apr 2014
Paul Razan, Groza Tudor, Hunter Jane, Zankl Andreas
Abstract excerpt
Finding, capturing and describing characteristic features represents a key aspect in disorder definition, diagnosis and management. This process is particularly challenging in the case of rare disorders, due to the sparse nature of data and expertise. From a computational perspective, finding characteristic features is associated with some additional major challenges, such as formulating a computationally...
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