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Internet resources for the clinical geneticist
1CMMT Bioinformatics Core Facility, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada. francis@cmmt.ubc.ca
Clinical Genetics
|November 24, 1999
Summary
This review highlights key online resources for clinical geneticists, focusing on the National Center for Biotechnology Information (NCBI) and its PubMed database. It details genetic disease information, OMIM, and human genome project resources.
Area of Science:
- Genetics
- Bioinformatics
- Medical Informatics
Background:
- The internet provides numerous resources for clinical geneticists.
- Access to up-to-date genetic information is crucial for diagnosis and research.
- Several key online databases and resources are available.
Purpose of the Study:
- To review essential internet-based resources for clinical geneticists.
- To emphasize resources available through the National Center for Biotechnology Information (NCBI).
- To highlight the utility of PubMed for accessing MEDLINE information.
Main Methods:
- Review of selected online resources, with a focus on NCBI.
- Detailed description of three specific NCBI resources: 'Genes and diseases', Online Mendelian Inheritance in Man (OMIM), and Human Genome Project (HGP) resources.
- Inclusion of relevant Uniform Resource Locators (URLs).
Main Results:
- NCBI offers curated web pages ('Genes and diseases') linking to genetic disease information.
- The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive human genetic disease data.
- Human genome resources offer insights into the Human Genome Project (HGP).
Conclusions:
- Internet resources, particularly those from NCBI, significantly aid clinical geneticists.
- PubMed serves as a central hub for accessing genetic and medical literature.
- These resources collectively enhance the understanding and management of genetic diseases.