PhenoDB: A Tool for [@[Short Description]]
Dr. Ada Hamosh, 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, 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.
- Using the Genomic Data Commons APIApril 26, 2021