Phenomizer: a freely available tool for clinical genetics

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.

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Peter Robinson, MD, MSc

Computational Biology Group, Institute for Medical Genetics, Charité-Universitätsmedizin Berlin, Germany.

Phenomizer

Reference:

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

Editor, hum-molgen.org

Message posted by: Diego Forero