The Human Gene Mutation Database HGMD® Professional is a unique resource providing comprehensive data on human inherited disease mutations. Its compilation of structured, manually curated data from the peer-reviewed literature enables quick access to both single mutation queries and advanced search applications. HGMD® is widely used in human genetics research, diagnostics, and personal genomics applications. Among the benefits of using HGMD® are: quickly verify novel mutations, understand the mutational spectrum of a particular gene or disease, and assessing individual disease risk. Free and open to UF faculty, researchers, students, and staff.
The attendees will learn to:
- look up mutation information for a gene of interest
- filter a gene’s mutation information by an associated disease
- look up mutation information for a disease of interest
- browse for mutations by type of mutation (missense, nonsense, indel, etc.)
- perform advanced searches to identify mutations by criteria such as nucleotide and amino acid sequence context, affected genomic features, and more
- export mutation tracks for viewing in UCSC’s genome browser