Abstract
Online Mendelian Inheritance in Man, OMIM®, is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched in January 2011. OMIM is based on the published peer-reviewed biomedical literature and is used by overlapping and diverse communities of clinicians, molecular biologists and genome scientists, as well as by students and teachers of these disciplines. Genes and phenotypes are described in separate entries and are given unique, stable six-digit identifiers (MIM numbers). OMIM entries have a structured free-text format that provides the flexibility necessary to describe the complex and nuanced relationships between genes and genetic phenotypes in an efficient manner. OMIM also has a derivative table of genes and genetic phenotypes, the Morbid Map. OMIM.org has enhanced search capabilities such as genome coordinate searching and thesaurus-enhanced search term options. Phenotypic series have been created to facilitate viewing genetic heterogeneity of phenotypes. Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links. All OMIM data are available for FTP download and through an API. MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.
Highlights
Online Mendelian Inheritance in Man (OMIM), a continuation of Dr Victor A
Images from the Elements of Morphology are viewable from a mouse-over next to many features in OMIM’s clinical synopses (Figure 4)
A list of the phenotypes that are in series is available from within the FAQ information from the link at the top of every OMIM.org page
Summary
Online Mendelian Inheritance in Man (OMIM), a continuation of Dr Victor A. McKusick’s Mendelian Inheritance in Man (MIM) [1], is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. Unlike databases of primary data, OMIM synthesizes and summarizes new and important information based on expert review of the biomedical literature. OMIM.org was created to provide a user-friendly and searchable portal to a curated compilation of the literature to aid in clinical and molecular genetic research. While OMIM content is still indexed and accessible at the National Center for Biotechnology Information (NCBI), the OMIM.org website has different indexing, greater searching capabilities, novel and user-friendly displays of gene/phenotype relationships, and topically organized links to a wide variety of external resources, which are targeted to information related to data in the OMIM entry. The API enables batch queries and computational integration of data on the fly
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