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The Beginner’s Guide to OMIM

The Beginner’s Guide to OMIM. U.S. National Library of Medicine. What is OMIM?. OMIM stands for “Online Mendelian Inheritance in Man” It is a system of cataloging human genes and genetic diseases. It was first created by Dr. Victor McKusick of Johns Hopkins University.

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The Beginner’s Guide to OMIM

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  1. The Beginner’s Guide to OMIM U.S. National Library of Medicine

  2. What is OMIM? • OMIM stands for “Online Mendelian Inheritance in Man” • It is a system of cataloging human genes and genetic diseases. • It was first created by Dr. Victor McKusick of Johns Hopkins University. U.S. National Library of Medicine

  3. How do I find OMIM? • Start this tutorial by going to the National Center for Biotechnology Information (NCBI) homepage • https://www.ncbi.nlm.nih.gov

  4. Finding OMIM on NCBI • On the NCBI homepage there is a link for OMIM at the top.

  5. Now I’m at OMIM…What next? • OMIM gives you an introduction to what it is on the main page. There is also a toolbar along the side.

  6. What is available to me on the toolbar? • The options available allow you to include: • A help function • Search gene or morbid maps (cytogenetic map locations of disease genes) • A FAQ section allows you to learn the symbols and nomenclature associated with OMIM and genetics • There are links to other well known sources of genetic information • Additionally you can find the current number of genes and which inheritance pattern it belongs to under the Statistics tab

  7. Can I search for something specific? • You may use the search field at the top to look for any disease or gene location.

  8. What the Search bar does for you • Once you enter in the item you want to look for a list of matches will appear. Choose from the list which one is closest to your intended choice. • This is an example of PKU

  9. You found your topic…What next? • Once you have clicked on your topic of interest you will be given • the location on the chromosome • the alternative names for the disease • A complete description that includes the clinical features, the mapping, the inheritance, the epidemiology, the pathogenesis, and often many other important facts regarding the topic of interest

  10. What’s with all the paper references? • OMIM is set up so that information is gathered through many forms of publications. The most common form you will see is peer-reviewed journal articles. • If you click on a highlighted author name it will take you to the full reference which will allow you to easily find the article of interest through another search engine

  11. The advantages of OMIM • OMIM is an excellent resource to use to gain a better overall understanding of a disease or gene. • All entries are written for readability. • There is easy access to the appropriate references for each point related to any topic.

  12. Cautions when using OMIM • OMIM is a compilation (a review) of known materials designed to give a strong background on a topic….it is NOT designed to take the place of reading a particular article that is briefly mentioned in the text. • Some topics are more inclusive than others. • All information is the most current knowledge for the revision date….it doesn’t not necessarily imply that everything is accurate. • For example some entries have not be reviewed in the past 2-3 years and, therefore, may be out of date on some of the newest information available. Check the reviewed last date on the bottom of a page.

  13. Enjoy your trial run • Try it out. By clicking on any toolbar on the side panel you will be given description of what it is designed to help you search for. • Now that you know where to find OMIM, what the purpose is and some of the features it can offer you enjoy learning more. U.S. National Library of Medicine

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