Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease.

Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease. Curr Protoc Hum Genet. 2012 Apr;Chapter 9:Unit 9.13.1-10 Authors: Baxevanis AD 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. PMID: 22470145 [PubMed - indexed for MEDLINE]
Source: Current Protocols in Human Genetics - Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research