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Related Experiment Videos

Online Mendelian Inheritance in Man (OMIM).

A Hamosh1, A F Scott, J Amberger

  • 1McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

Human Mutation
|December 29, 1999
PubMed
Summary
This summary is machine-generated.

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The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive genetic disorder and human gene information. It serves as a vital resource, linking to extensive genetic data and literature for researchers.

Area of Science:

  • Genetics
  • Bioinformatics
  • Medical Informatics

Background:

  • Online Mendelian Inheritance in Man (OMIM) is a key public database.
  • It contains bibliographic information on human genes and genetic disorders.
  • Originally Mendelian Inheritance in Man, it is now electronically distributed by the National Center for Biotechnology Information (NCBI).

Purpose of the Study:

  • To describe the OMIM database and its utility.
  • To highlight its role as a gateway to human genetics resources.
  • To explain its features and content derivation.

Main Methods:

  • Content is derived from the biomedical literature.
  • Entries are written by experts at Johns Hopkins University and collaborators.
  • Database features include full-text summaries and extensive links to other genetic resources.

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Main Results:

  • Each OMIM entry provides a summary of a genetic phenotype and/or gene.
  • It links to resources like DNA/protein sequences, PubMed, and mutation databases.
  • NCBI's neighboring feature aids in identifying related PubMed articles.

Conclusions:

  • OMIM is a crucial resource for clinicians, students, and researchers.
  • It acts as a major gateway to the vast field of human genetics literature and data.
  • Its integrated features enhance access to genetic information and research.