PosMed: A Biomedical Entity Prioritisation Tool Based on Statistical Inference over Literature and the Semantic Web.

Positional MEDLINE (PosMed) is a web application that quickly prioritises biomedical entities such as genes and diseases based on statistical significance of associations between these and a user-specified keyword by employing our original search engine named General and Rapid Association Study Engine (GRASE). GRASE search is modelled as an extension of SPARQL search with statistical analysis, which enables searching over semantic data including not only linked datasets but also significant extracted semantic links over multiple biomedical documents. PosMed was originally implemented for in silico positional cloning studies by prioritizing genes. Further applications include bioresource search with associated genetic functions or ontologies, and functional interpretation of gene variants found from exome sequencing of personal genomes. PosMed is available at http://database.riken.jp/PosMed/.