Unit

UNIT 1.2 Searching Online Mendelian Inheritance in Man (OMIM) for Information on Genetic Loci Involved in Human Disease

  1. Andreas D. Baxevanis

Published Online: 1 MAR 2012

DOI: 10.1002/0471250953.bi0102s37

Current Protocols in Bioinformatics

Current Protocols in Bioinformatics

How to Cite

Baxevanis, A. D. 2012. Searching Online Mendelian Inheritance in Man (OMIM) for Information on Genetic Loci Involved in Human Disease. Current Protocols in Bioinformatics. 37:1.2:1.2.1–1.2.10.

Author Information

  1. Bethesda, Maryland

Publication History

  1. Published Online: 1 MAR 2012
  2. Published Print: MAR 2012

Abstract

Online Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can be retrieved from OMIM, including descriptions of clinical manifestations resulting from genetic abnormalities. This unit also provides information on additional relevant medical and molecular biology databases. A basic knowledge of OMIM should be part of the armamentarium of physicians and scientists with an interest in research on the clinical aspects of genetic disorders. Curr. Protoc. Bioinform. 37:1.2.1-1.2.10. © 2012 by John Wiley & Sons, Inc.

Keywords:

  • OMIM;
  • human genetic disorders;
  • human genetic inheritance;
  • molecular genetics;
  • mammalian orthology