Clinical Synopsis Search in OMIM

Background: The OMIM database is a tool used daily by geneticists. Syndrome pages include a Clinical Synopsis section containing a list of known phenotypes comprising a clinical syndrome. The phenotypes are in free text and different phrases are often used to describe the same phenotype, the differences originating in spelling variations or typing errors, varying sentence structures and terminological variants. These variations hinder searching for syndromes or using the large amount of phenotypic information for research purposes. In addition, negation forms also create false positives when searching the textual description of phenotypes and induce noise in text mining applications. Description: Our method allows efficient and complete search of OMIM phenotypes as well as improved datamining of the OMIM phenome. Applying natural language processing, each phrase is tagged with additional semantic information using UMLS and MESH. Using a grammar based method, annotated phrases are clus...

• Type: Journal
• Year: 2011
• Where: BMCBI
• Authors: Raphael Cohen, Avitan Gefen, Michael Elhadad, Ohad S. Birk
• Keywords: Artificial Intelligence, BMCBI 2011, OMIM, Phenotypes, Syndrome