Online Mendelian Inheritance in Man
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Online Mendelian Inheritance in Man ® (OMIM) is a part of the National Institute of Health's NCBI network of life sciences databases, and the collection describes itself as a "compendium of human genes and genetic phenotypes." The database is also available through OMIM.org. OMIM contains full text overviews detailing "all known mendelian disorders and over 12,000 genes." The database is "is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh" and is updated daily. The main page of OMIM gives this description of the collection's history:
This database was initiated in the early 1960s by Dr. Victor A. McKusick as a catalog of mendelian traits and disorders, entitled Mendelian Inheritance in Man (MIM). Twelve book editions of MIM were published between 1966 and 1998. The online version, OMIM, was created in 1985 by a collaboration between the National Library of Medicine and the William H. Welch Medical Library at Johns Hopkins. It was made generally available on the internet starting in 1987. In 1995, OMIM was developed for the World Wide Web by NCBI, the National Center for Biotechnology Information.
Users can search OMIM through five available search forms (between the NCBI portal and OMIM.org):
- NCBI search form with limiters - Users can enter search criteria into a single search form (which does support field tags and Boolean operators). Users can then select specific limiters to narrow the search, such as "Search in Field(s)," "MIM Number Prefix," "Chromosome(s)," "Only Records with," "Creation Date," and "Last Modification."
- Simple search form on OMIM.org, which supports Boolean operators, field searching, parentheses, proximity searching, wildcard operators, (+/-) operators, and "term weight boosting." See the search guide for for instructions on query construction and all available field codes in OMIM.
- Advanced search form on OMIM.org, which has the same functionality as the simple search form, but limiters similar to those on the NCBI search form are available.
- Clinical Synopsis advanced search form on OMIM.org, which allows users to search clinical synopses, sort them by relevance or date, and limit records to certain topics. This form has its own search fields.
- Gene Map advanced search on OMIM.org (also linked to on NCBI portal), which searches "the cytogenetic locations of genes and disorders, respectively, that are described in OMIM. Only OMIM entries for which a cytogenetic location has been published in the cited references are represented" in the Gene Map. Within the search form, users can narrow the search by selecting chromosome numbers as limiters. This form has its own search fields.
The NCBI search portal will produce a customizable hit list, where users can adjust the display formats, change the number of results per page, and export, save, or print selected results. Users can save searches (after creating a My NCBI account) and view recent queries. Selecting a result title will take the user directly to the full record at OMIM.org, and selecting the "Gene map locus" of the result will take the user to the Gene Map record at OMIM.org.
A search through OMIM.org on either the simple or advanced search forms will produce similar hit lists to the NCBI portal hit list, where both a record title and "Cytogenetic location" is displayed for each result. A search through the Clinical Synopsis search form produces a hit list of clinical synopsis records, and a search of the Gene Map produces a list of gene results.
- ↑ 1.0 1.1 1.2 "OMIM ® - Online Mendelian Inheritance in Man ®." NCBI portal, http://www.ncbi.nlm.nih.gov/omim. Accessed September 1, 2011.
- ↑ "OMIM Search Help." OMIM website, http://omim.org/help/search. Accessed September 1, 2011.
- ↑ "OMIM Frequently Asked Questions (FAQs)." OMIM website, http://omim.org/help/faq. Accessed September 1, 2011.