OpenHelix制作的omim使用教程Jan.ppt

* OMIM is a rich resource with over 40 years of experience cataloging human mendelian disease. To quote from the “About” page, and as evidenced by these statistics, OMIM is a “comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.” * There are many ways to access OMIM data, including the powerful search tools provided by OMIM, such as this advanced search form. You might also find yourself entering the OMIM data collection from an external entry point, such as the UCSC Genome Browser or the OMIM app for ScienceDirect. * Once in OMIM you will have access to a wealth of gene and phenotype data in various formats including: detailed free-text entries, Gene Map displays, Phenotypic Series and Clinical Synopses. * You will also have access to links to newborn screening information, lists of disease codes, and out to a variety of external information sources, as well as to an abundance of connections between allelic variants and disease phenotypes. OMIM plays a central role in naming and classifying mendelian phenotypes, and it also provides a vetted catalog of manually-curated associations between human phenotypes and their causative genes with many dynamic views and search tools. As such it is a valuable resource for those with an interest in mendelian disease information. * [end of Summary] That completes our summary. [beginning of Exercises] In this section we will explore exercises that reinforce concepts developed in this tutorial. * Thank you for viewing an OpenHelix tutorial. Here is a partial image of our search results. We can see our search phrase, and could change the sorting of our results if we wanted. We could also access advanced search tools, view or clear our search history, and toggle the highlighting of search terms on or off. Searching from the OMIM homepage is a powerful way to find either Gene Map data or clinical synopses, and these can be accessed from buttons on our sea