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A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)†

  1. Joanna Amberger,
  2. Carol Bocchini,
  3. Ada Hamosh*

Article first published online: 5 APR 2011

DOI: 10.1002/humu.21466

Issue

Human Mutation

Human Mutation

Special Issue: Bioinformatics for Human Genetics: Promises and Challenges, A Human Variome Project Special Issue

Volume 32, Issue 5, pages 564–567, May 2011

Additional Information

How to Cite

Amberger, J., Bocchini, C. and Hamosh, A. (2011), A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). Hum. Mutat., 32: 564–567. doi: 10.1002/humu.21466

Author Information

  1. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland

*McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287

  1. †

    For the HVP Bioinformatics Special Issue

Publication History

  1. Issue published online: 21 APR 2011
  2. Article first published online: 5 APR 2011
  3. Accepted manuscript online: 8 FEB 2011 02:25PM EST
  4. Manuscript Accepted: 19 JAN 2011
  5. Manuscript Received: 10 DEC 2010

Funded by

  • NHGRI. Grant Number: 3UO1HG004438 (for OMIM curation and updating)
  • Re-use of this article is permitted in accordance with the Terms and Conditions set out at [http://wileyonlinelibrary.com/author resources/onlineopen.html]

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Keywords:

  • OMIM;
  • nosology;
  • disease classification;
  • database

Abstract

OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map of the Genome) and classifying and naming newly recognized disorders is growing rapidly. Establishing the relationship between genotype and phenotype has become increasingly complex. New technologies such as genome-wide association studies (GWAS) and array comparative genomic hybridization (aCGH) define “risk alleles” that are inherently prone to substantial interpretation and modification. In addition, whole exome and genome sequencing are expected to result in many reports of new mendelian disorders and their causative genes. In preparation for the onslaught of new information, we have launched a new Website to allow a more comprehensive and structured view of the contents of OMIM and to improve interconnectivity with complementary clinical and basic science genetics resources. This article focuses on the content of OMIM, the process and intent of disease classification and nosology, and anticipated improvements in our new Website (http://www.omim.org). Hum Mutat 32:1–4, 2011. © 2011 Wiley-Liss, Inc.

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