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OMIM is a timely, comprehensive knowledgebase of genes and genetic disorders. Comprised of over 22,000 entries describing about 14,500 genes and 7500 phenotypes, including single gene Mendelian disorders, traits (such as hair color), and more common disorders for which there is a significant genetic component. OMIM's free-text, structured entries allow rapid overview of knowledge regarding specific genes and disorders as well as a nuanced discussion of increasingly complex topics. During this presentation Dr. Hamosh will show the types of information (including structured data) available in OMIM regarding genes and disorders, the ability to access data from the front end as well as for batch queries through our API. This interactive session will engender discussion of ways to optimize the resource for your use. |
BIO:
Dr. Ada Hamosh, the Dr. Frank V. Sutland Professor of Pediatric Genetics, is the Clinical Director of the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, the Scientific Director of Online Mendelian Genetics in Man (OMIM®), and the Co-Chair of the Phenotype Review Committee of the combined and Baylor-Hopkins Centers for Mendelian Genomics (CMG), a National Human Genome Research Institute-funded project to identify the genes responsible for known and novel Mendelian disorders. Over the past year, Dr. Hamosh and colleagues have developed PhenoDB (http://phenodb.net), a Web-based tool for the collection, storage, and analysis of standardized phenotype and genotype data for use in the CMG project that is freely available to all for clinical and research use.
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