The goal of Online Mendelian Inheritance in Man (OMIM) is to expand the understanding of human biology and disease by providing a timely, authoritative, easily accessible, and computable knowledgebase of the increasingly complex and nuanced relationships between human genes and genetic phenotypes (disorders and traits). OMIM has been freely available on the internet/web since 1987. With detailed descriptions of over 7,500 disorders and more than 15,400 genes, OMIM has an unparalleled breadth and richness of description of human phenotypic variation that directly facilitates clinical care, disease-gene discovery, and translational science. OMIM is a ?go-to? resource for clinical geneticists and other health care professionals and for researchers in many fields including molecular biology, genetics, genomics, bioinformatics, and drug discovery. OMIM names and classifies Mendelian phenotypes based on the peer-reviewed biomedical literature and consultation with the medical community. OMIM's stability and authority are internationally recognized, and MIM number identifiers are widely used throughout the biomedical literature. At the core of OMIM are expert biocurators and MD and PhD science writers who review, evaluate, and summarize prioritized relevant articles into structured entries. Since the creation of OMIM.org in 2011, we enrich its content by including automated mappings of OMIM data to structured-vocabulary resources such as ICD9/10, SNOMED CT, HPO, and the UMLS. In addition, we leverage data from a variety of other resources to augment online content, and have further enabled computational survey and data mining with the creation of a robust REST API. OMIM's Morbid Map is at the heart of correlating phenotypes and genes. To show the genetic heterogeneity of a clinical phenotype, we have created Phenotypic Series. We collaborate with other informatics resources and curation efforts such as ClinVar and ClinGen to share and harmonize data elements. OMIM's core competency is expert curation of the literature and selection of database content. Going forward, we will ensure coverage of the output of NGS initiatives by hiring and training additional expert curators and bioinformatics staff and continuing to develop efficient and automated processes to mine the biomedical literature. We are redesigning the website to offer additional views of phenotype-gene relationships, side-by-side comparisons of clinical synopses, and new field-assisted and batch query searching. We are engaging the community through on-site training and with innovative new services such as MIMmatch. We will enhance the structural compatibility of OMIM with other entities and maintain industry-best practices in database and software development. We will provide web and API services to our over 2.7 million unique users per year in a targeted and cost-effective way.

Public Health Relevance

Now in its 50th year, Online Mendelian Inheritance in Man (OMIM) is a foundational knowledgebase of human genes and genetic disorders and traits that is accessed annually by over 2.7 million unique users worldwide. Its core competency is (1) describing, naming, and classifying genetic diseases, and (2) providing easily accessible and computable information on gene-disease relationships through rich, structured text, brief clinical synopses, a table that tracks the progress of disease-gene discovery. Expert MD and PhD biocurators review and summarize information from the biomedical literature to create this authoritative, comprehensive and timely resource that is essential for the practice of medicine, and directly advances basic, translational, and clinical research, as well as therapeutic discovery.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Biotechnology Resource Cooperative Agreements (U41)
Project #
5U41HG006627-09
Application #
9969585
Study Section
Special Emphasis Panel (ZHG1)
Program Officer
Ramos, Erin
Project Start
2012-06-12
Project End
2022-05-31
Budget Start
2020-06-01
Budget End
2021-05-31
Support Year
9
Fiscal Year
2020
Total Cost
Indirect Cost
Name
Johns Hopkins University
Department
Genetics
Type
Schools of Medicine
DUNS #
001910777
City
Baltimore
State
MD
Country
United States
Zip Code
21205
Boycott, Kym M; Rath, Ana; Chong, Jessica X et al. (2017) International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet 100:695-705
Dyke, Stephanie O M; Knoppers, Bartha M; Hamosh, Ada et al. (2017) ""Matching"" consent to purpose: The example of the Matchmaker Exchange. Hum Mutat 38:1281-1285
Amberger, Joanna S; Hamosh, Ada (2017) Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes. Curr Protoc Bioinformatics 58:1.2.1-1.2.12
Amberger, Joanna S; Bocchini, Carol A; Schiettecatte, François et al. (2015) OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res 43:D789-98
Diehl, Adam C; Reader, Lauren; Hamosh, Ada et al. (2015) Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles. Genet Med 17:158-63