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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
Summary
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.
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.
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