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Human Genome News, May 1994; 6(1)

GDB Forum: Restructuring OMIM

To incorporate new information and integrate OMIM text with the resources of GDB and other databases, OMIM staff, assisted by an editorial board to provide expertise in specific areas, are restructuring OMIM entries. Defined sections of OMIM will permit links within entries and to other databases, and subject-area editors will be able to work simultaneously on different parts of the same entry.

Some entries may be split; this will permit database links between genes and disease phenotypes in cases of (1) multigene mutations that have the same phenotype or (2) multiple phenotypes that derive from different mutations in the same gene. All entries will eventually be restructured, with the most commonly used ones first, and become available online as they are completed.

The restructured OMIM documents are in Standard Generalized Markup Language (SGML) format, which allows easy conversion of documents for World Wide Web access, IRX generation, CD-ROM, and book production. Errors within documents can also be noted and corrected immediately.

Sections and Abbreviations of New OMIM Entry Structure*

  • MIM Number [no]
  • Title [ti]
  • Description [id]
  • Nomenclature [nm]
  • Phenotype (contains Clinical Features, Biochemical Features) [pt]
  • Genotype (contains Mapping Information, Molecular Genetics, Mode of inheritance, Cytogenetics) [gt]
  • Pathogenesis/Pathophysiology [pa]
  • Diagnosis [dg]
  • Clinical Management [tr]
  • Population Genetics [pg]
  • Evolution [ev]
  • Animal Models [am]
  • Historical Information [hi]
  • Allelic Variants [av]
  • References [rf]
  • Clinical Synopsis [cs]
  • Old MIM Number (if applicable)
  • Edit Dates (with editor name) [ed]

*Only sections and subsections with information available will appear in the documents.

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Human Genome Program, U.S. Department of Energy, Human Genome News (v6n1).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.