Tutorial

Diseases and phenotypes

Phenotype information has been extracted from OMIM. The OMIM morbid map file is remediated to standardize phenotype names. In addition, simple phenotype clustering is implemented using similar text/character strings. For example, the multiple entries for Alzheimer's disease subtypes are merged into one phenotype based on the text string "Alzheimer". The purpose of this simple phenotype clustering is to capture as much relevant genetic information on the phenotype as possible. Users have the ability to deconstruct phenotype clusters during the prediction process if desired. Users can also insert their own phenotypes if it is currently not used.