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

Andreas D. Baxevanis1

1 null, Bethesda, Maryland
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 9.13
DOI:  10.1002/0471142905.hg0913s73
Online Posting Date:  April, 2012
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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. Hum. Genet. 73:9.13.1‐9.13.10. © 2012 by John Wiley & Sons, Inc.

Keywords: OMIM; human genetic disorders; human genetic inheritance; molecular genetics; mammalian orthology

     
 
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Table of Contents

  • Introduction
  • Basic Protocol 1: Searching OMIM
  • Alternate Protocol 1: Downloading OMIM
  • Guidelines for Understanding Results
  • Commentary
  • Literature Cited
  • Figures
  • Tables
     
 
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Materials

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Figures

Videos

Literature Cited

   Amberger, J., Bocchini, C.A., Scott, A.F., and Hamosh, A. 2009. McKusick's Online Inheritance in Man (OMIM). Nucleic Acids Res. 37:D793‐D796.
   Amberger, J., Bocchini, C.A., and Hamosh, A. 2011. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM). Hum. Mutat. 32:564‐567.
   Aoki, K.F. and Kanehisa, M. 2005. Using the KEGG database resource. Curr. Protoc. Bioinform. 11:1.12.1‐1.12.54.
   Fernández‐Suárez, X.M. and Schuster, M.K. 2010. Using the Ensembl genome server to browse genomic sequence data. Curr. Protoc. Bioinform. 30:1.15.1–1.15.48.
   Gong, L., Owen, R.P., Gor, W., Altman, R.B., and Klein, T.E. 2008. PharmGKB: An integrated resource of pharmacogenomic data and knowledge. Curr. Protoc. Bioinform. 23:14.7.1‐14.7.17.
   Karolchik, D., Hinrichs, A.S., and Kent, W.J. 2009. The UCSC genome browser. Curr. Protoc. Bioinform. 28:1.4.1‐1.4.26.
   McKusick, V.A. 1998. Online Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders, 12th edition. Johns Hopkins University Press, Baltimore, Maryland.
   Ramachandran, S., Ruef, B., Pich, C. and Sprague, J. 2010. Exploring zebrafish genomic, functional and phenotypic data using ZFIN. Curr. Protoc. Bioinform. 31:1.18.1‐1.18.44.
   Shaw, D. R. 2009. Searching the Mouse Genome Informatics (MGI) resources for information on mouse biology from genotype to phenotype. Curr. Protoc. Bioinform. 25:1.7.1‐1.7.14.
   Stein, L.D. 2004. Using the reactome database. Curr. Protoc. Bioinform. 7:8.7.1‐8.7.16.
   Wolfsberg, T.G. 2010. Using the NCBI Map Viewer to browse genomic sequence data. Curr. Protoc. Bioinform. 29:1.5.1‐1.5.25.
Internet Resources
   http://omim.org
  The OMIM Web site.
   http://omim.org/help/faq
  Frequently asked questions (FAQ) about OMIM.
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