OMIM.org: leveraging knowledge across phenotype–gene relationships

Abstract For over 50 years Mendelian Inheritance in Man has chronicled the collective knowledge of the field of medical genetics. It initially cataloged the known X-linked, autosomal recessive and autosomal dominant inherited disorders, but grew to be the primary repository of curated information on...

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Veröffentlicht in:Nucleic acids research Jg. 47; H. D1; S. D1038 - D1043
Hauptverfasser: Amberger, Joanna S, Bocchini, Carol A, Scott, Alan F, Hamosh, Ada
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Oxford University Press 08.01.2019
Schlagworte:
Computational Biology - methods
Database Issue
Databases, Genetic
Genetic Association Studies - methods
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease - genetics
Genetics, Medical - methods
Genomics - methods
Humans
Information Storage and Retrieval - methods
Inheritance Patterns - genetics
Internet
ISSN:0305-1048, 1362-4962, 1362-4962
Online-Zugang:Volltext
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Zusammenfassung:Abstract For over 50 years Mendelian Inheritance in Man has chronicled the collective knowledge of the field of medical genetics. It initially cataloged the known X-linked, autosomal recessive and autosomal dominant inherited disorders, but grew to be the primary repository of curated information on both genes and genetic phenotypes and the relationships between them. Each phenotype and gene is given a separate entry assigned a stable, unique identifier. The entries contain structured summaries of new and important information based on expert review of the biomedical literature. OMIM.org provides interactive access to the knowledge repository, including genomic coordinate searches of the gene map, views of genetic heterogeneity of phenotypes in Phenotypic Series, and side-by-side comparisons of clinical synopses. OMIM.org also supports computational queries via a robust API. All entries have extensive targeted links to other genomic resources and additional references. Updates to OMIM can be found on the update list or followed through the MIMmatch service. Updated user guides and tutorials are available on the website. As of September 2018, OMIM had over 24,600 entries, and the OMIM Morbid Map Scorecard had 6,259 molecularized phenotypes connected to 3,961 genes.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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Present address: Ada Hamosh, MD, MPH, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
ISSN:0305-1048
1362-4962
1362-4962
DOI:10.1093/nar/gky1151