title: Implementation of a classification hierarchy for the GeneTests/GeneClinics genetic testing databases.
abstract: The combination of a) our changing understanding of genotypic and phenotypic classification of diseases and b) the rapid growth and expansion of the number of entries in two databases targeted toward clinicians resulted in the need to develop a flexible dynamic hierarchical classification system for genetic disorders. The two databases making use of this classification schemas are the GeneClinics (GC) database - www.geneclinics.org and the GeneTests (GT) database - www.genetests.org The GC and GT databases serve respsectively as the users manual and yellow pages of genetic testing. The GeneTests/GeneClinics (GT/GC) classification hierarchy is maintained as a simple set of parent/child relationships in a relational database. The hierarchy is generated in real time in response to a user request. It is not maintained as a set of members with relationships defined by characters that are parsed to determine the structure of the tree. The GT/GC classification hierarchy entries are handled as objects by the data maintenance and search tools and may have a number of attributes and associations that create a rich tool for defining and examining genetic disorders
authors.affiliation: Pediatrics, University of Washington, Seattle, WA, USA.
authors.forename: J
authors.initials: J
authors.lastname: Edwards
authors.forename: P
authors.initials: P
authors.lastname: Tarczy-Hornoch
mesh_terms: D030541:Databases, Genetic; D030342:Genetic Diseases, Inborn / Q000145:classification*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D010641:Phenotype