OMIM2008 - Introduction to gene analysis using OMIM and Map...

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Introduction to gene analysis using OMIM and Map Viewer Written by Faten Deeb, Holly M. Mortensen and Alana Doty O BJECTIVE The objective of this exercise is to introduce some of the bioinformatics tools available for disease gene analysis at NCBI. NCBI, The National Center for Biotechnology Information , established in 1988, is a national resource for molecular biology information. The NCBI research group, a division of the NLM ( National Library of Medicine ) at the NIH ( National Institutes of Health ), is composed of computer scientists, molecular biologists, mathematicians, biochemists, research physicians, and structural biologists who concentrate on basic and applied research in molecular biology. These researchers create public databases, develop software tools for the analyses of genome data, actively curate and update research databases, and disseminate biomedical information through the publicly available NCBI website: The NCBI site is one of the most visited publicly available databases, which speaks to the growth in recent years of the bioinformatics field in general. The NCBI site is constantly being updated and modified in order to stay up to date. This makes the following exercise difficult, in that the student must be aware that simply following the exercise blindly may lead you astray. You will benefit most by using the prelabs to orient yourself to the structure of the NCBI site, and the contents of its databases. When you can effectively navigate the NCBI pages, completing the exercise will run smoothly . I NTRODUCTION TO OMIM OMIM: Online Mendelian Inheritance in Man is a large, current database of human genes, traits and genetic disorders. It is available from the NCBI website but maintained by physicians and researchers at Johns Hopkins University and elsewhere. The database is a large collection of information and references, and is linked to other resources available at NCBI such as PubMed, BLAST, and Entrez Genomes. An OMIM record for a specific gene provides summaries of the published research regarding that gene, its normal biological function (when known), the disorders associated with different mutations in the gene, and a list of related genes in humans and other organisms. In addition, it provides links to nucleotide and amino acid sequences, clinical research and genetic testing. To access OMIM, go to the NCBI homepage: Using the top-most taskbar, select the OMIM link. There are three different interfaces from which to search and access records on OMIM that are accessible from the left-most column:
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OMIM : Allows you to search by keyword, using, for example, the disease name or gene symbol.
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OMIM2008 - Introduction to gene analysis using OMIM and Map...

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