ONLINE MENDELIAN INHERITANCE IN MAN (OMIM) RESTRUCTURING AND INTEGRATION

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This project is designed to edit the test of Online Mendelian Inheritance in Man (OMIM), to make it more readable and more readily searchable by organizing each entry under specific subheadings, and to design and implement the data structures and links necessary to integrate the OMIM text with the Genome Data Base (GDB). The OMIM text will be updated to ensure that each entry has a complete description of the locus (phenotype, protein gene product, etc.), a complete clinical synopsis, and an up-to- date listing of allelic variants (molecular defects). New OMIM entries will be created for genes or pseudogenes in the GDB but not found in OMIM> An abridged version of the OMIM text ("mini-MIM") will be created and placed within the SYBASE relational database system of the GDB. Finally, to facilitate the differential diagnostic process, integration of a clinical thesaurus into the database is anticipated, and critical analyses of a number of other clinical diagnostic database will be performed to assess their suitability as accessory diagnostic tools for use with OMIM. The overall objective of the project is to make the textual information in OMIM more easily searchable and more readily accessible to the GDB user, and GDB data more readily available to the OMIM user.