UNIT 1.2 Searching Online Mendelian Inheritance in Man (OMIM) for Information on Genetic Loci Involved in Human Disease
Published Online: 1 MAR 2012
Copyright © 2012 by John Wiley & Sons, Inc.
Lab Protocol Title
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.
- Published Online: 1 MAR 2012
- Published Print: MAR 2012
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.
- human genetic disorders;
- human genetic inheritance;
- molecular genetics;
- mammalian orthology