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photo of Ada HamoshSYNOPSIS:

OMIM is a timely, comprehensive knowledge base 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.

Session details...

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 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 Exit Disclaimer logo , 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.

Dr. Hamosh has authored over 70 papers and serves on several international committees representing genome-phenome relationships, as well as phenotype ontologies, including the International Rare Disease Research Consortium, the Human Variome Project, the ClinGen Project, Global Alliance for Genomic Health, and the Human Genome Organization.

SUMMARY:

Topic: OMIM, Online Mendelian Inheritance in Man, A Knowledgebase of Genes and Genetic Disorders

Speaker: Ada Hamosh, M.P.H., M.D., Johns Hopkins University School of Medicine

Date: Wednesday, May 28, 2014

Time: 11 AM – 12 PM EDT

You are invited to listen to Dr. Hamosh's presentation in Room 2W908 in the NCI Shady Grove Building on Medical Center Drive or via WebEx.

Presentation: A screen cast of the presentation will be available for viewing after the event here on our Speaker Series Videos page and on the NCI CBIIT Speaker Series YouTube Playlist Exit Disclaimer logo . The presentation slides are also attached.

About the NCI CBIIT Speaker Series:

The National Cancer Institute (NCI) Center for Biomedical Informatics and Information Technology (CBIIT) Speaker Series is a bi-weekly knowledge-sharing forum featuring both internal and external speakers on topics of interest to the biomedical informatics and research communities. For additional information, including past speaker series presentations, visit the CBIIT Speaker Series page.

Questions? Please email us at NCICBIITcomms@mail.nih.gov.

Individuals with disabilities who need reasonable accommodation to participate in this program should contact the Office of Space and Facilities Management (OSFM) at 240-276-5900 or the Federal TTY Relay number 1-800-877-8339.

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