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R -- CREATION AND MAINTENANCE OF THE ONLINE MENDELIAN INHERITANCE IN MAN DATABASE SOL NLM 99-202/SLC POC Sharon Cummings, 301-496-6546 E-MAIL: Click here to contact Sharon Cummings via e-mail., cummings@gwsmtp.nlm.nih.gov. It is the intent of the National Library of Medicine (NLM) to negotiate on a sole source basis pursuant to Far 6.302-1 and U.S.C. 253(c)(1) with the Johns Hopkins University (JHU), School of Medicine, Baltimore, MD for a four-year cost reimbursement type contract with options for additional effort within each year for the creation and maintenance of records in the Online Mendelian Inheritance of Man (OMIM) (JHU Registered Trademark) database. The OMIM database is a catalog of human genes and genetic disorders. The purpose of this contract is to ensure the continuance of OMIM as a timely, authoritative, and comprehensive source of information on human phenotypes and genes. The rate of discovery of new genes and the increase in experimental information pertaining to known genes requires the creation of new entries in the database and the revision of existing ones (currently over 9000 entries). Each entry is in a standardized format containing separate fields for its unique identification number (MIM number), descriptive name, locus symbol, descriptive overview, detailed text on the phenotype (clinical features, biochemistry, pathophysiology, clinical management, modes of inheritance) and, where applicable, on the gene (e.g., mapping and cytogenetic observations, gene expression, allelic variants), animal models, historical information, a set of references, clinical synopsis, and editing audit trail. The database also includes a human gene map with the cytogenetic location of mapped loci arranged by chromosome. A related map (morbid anatomy of the human genome) contains the cytogenetic map locations of disease genes. The primary source for entries is the peer-reviewed literature, supplemented by scanning genetic-related databases and consultation with recognized gene nomenclature committees and databases. The creation and revision of entries requires expertise in the field of human and molecular genetics in addition to scientific writing skills. Scientific judgement is required in determining whether information supports the existence of a distinct gene locus, in weighing the significance of clinical and experimental findings, and in integrating new information with previous entries. The content of the OMIM database is based on and derived from the printed work, Mendelian Inheritance in Man, which is copyrighted by its publisher, The Johns Hopkins University Press. The staff at Johns Hopkins under the leadership of Dr. Victor McKusick has been regularly maintaining and updating the data entries since the publication of the first edition in 1966. It is currently in its 12th edition (June, 1998). Because this compilation of human genes and the disorders and other traits with which they are associated is unique and because the rights to the data are owned by Johns Hopkins University, it has been determined that Johns Hopkins University is the only source capable of fulfilling NLM's requirement. All responsible sources may submit a proposal which will be considered by the National Library of Medicine. This notice of intent is not a Request for Proposals (RFP), nor is an RFP available. See Numbered Note 22. Posted 10/15/98 (W-SN262366). (0288)

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