Unit

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

  1. Bhavesh Borate,
  2. Andreas D. Baxevanis

Published Online: 1 SEP 2009

DOI: 10.1002/0471250953.bi0102s27

Current Protocols in Bioinformatics

Current Protocols in Bioinformatics

How to Cite

Borate, B. and Baxevanis, A. D. 2009. Searching Online Mendelian Inheritance in Man (OMIM) for Information on Genetic Loci Involved in Human Disease. Current Protocols in Bioinformatics. 27:1.2:1.2.1–1.2.13.

Author Information

  1. Bethesda, Maryland

Publication History

  1. Published Online: 1 SEP 2009
  2. Published Print: SEP 2009

This is not the most recent version of the article. View current version (1 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 and clinical aspects of genetic disorders. Curr. Protoc. Bioinform. 27:1.2.1-1.2.13. © 2009 by John Wiley & Sons, Inc.

Keywords:

  • OMIM;
  • human genetic disorders;
  • human genetic inheritance;
  • molecular genetics;
  • clinical trials