Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes

By J. S. Amberger, Ada Hamosh. Current Protocols in Bioinformatics, 2017

658 citations recorded by the source corpus.

Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases, providing easy access to more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit. The basic protocol explains searching OMIM both from a gene perspective and a clinical features perspective. Two alternate protocols provide strategies for viewing gene‐phenotype relationships: a gene map table and Quick View or Side‐by‐Side format for clinical features. OMIM.org is updated nightly, and the MIMmatch service, described in the support protocol, provides a convenient way to follow updates to entries, gene‐phenotype relationships, and collaborate with other researchers. © 2017 by John Wiley & Sons, Inc.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/ed164c07be0cf5fcc055cb33538447d6ca422a29

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Citations in the corpus

Molecular profiling for precision cancer therapies (2020, background): “Information (NCBI) ClinVar, Online Mendelian Inheritance in Man (OMIM)) that compile previously reported germline polymorphisms may also aid in differentiating tumor-specific somatic variants from non-pathogenic DNA variations in patients for whom no available matched normal tissue or blood is avail”
Genenames.org: the HGNC and VGNC resources in 2019 (2018, background): “HGNC symbols are displayed in all major databases containing human gene and protein data including Ensembl (1), NCBI Gene (2), UniProt (3), GeneCards (4) and the UCSC genome browser (5), as well as resources focused on human disease and phenotypes such as Decipher (6), OMIM (7), Locus Reference Geno”
OMIM.org: leveraging knowledge across phenotype–gene relationships (2018, methodology): “A detailed guide to searching OMIM is now provided in a chapter in Current Protocols (8), and video tutorials on searching OMIM and using MIMmatch are available from multiple links on the OMIM.org website.”