There are thousands of genetic disorders, characterized by specific combinations of phenotypic features. There is a clear need for computer-based tools that could be helpful in those diagnosis processes.
A recent paper in the American Journal of Human Genetics describes Phenomizer, a freely available online tool for those purposes. It is based on the Human Phenotype Ontology and allows an automatic correlation between phenotypic abnormalities and hereditary disorders.
P values are generated in order to evaluate the statistical significance of those correlation scores given by Phenomizer. It is also useful to suggest additional possible phenotypic alterations for further evaluation in the patients of interest.
Peter Robinson, MD, MSc
Computational Biology Group, Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Germany.
Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet. 2009 Oct;85(4):457-64.
Prof. Dr. Diego A. Forero, MD, PhD
Message posted by: Diego Forero
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