Searching online mendelian inheritance in man (OMIM): A knowledgebase of human genes and genetic phenotypes

Joanna S. Amberger, Ada Hamosh

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1.2.1-1.2.12
JournalCurrent Protocols in Bioinformatics
Volume2017
DOIs
StatePublished - Jun 1 2017

Keywords

  • Disease gene discovery
  • Human genetic disorders
  • Molecular genetics
  • OMIM

ASJC Scopus subject areas

  • Structural Biology
  • Biochemistry

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