HGMD®
Comprehensive resource covering inherited human disease mutations for personal genomics and diagnostics researchers.
HGMD® Professional is a unique resource providing comprehensive data on human inherited disease mutations to genetics and genomic research. Its compilation 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 and was an essential tool in analyzing the genomes of James D. Watson and J. Craig Venter as well as the genomes assembled by the 1000 Genomes Project.
Benefits
• Quickly access detailed reports for human inherited mutations without tedious and time consuming literature searches
• Easily verify whether an observed mutation is novel or has been previously described
• Understand the mutational spectrum of a particular gene or disease
• Analyze candidate genes for disease linkage and predisposition
Key Features
• 117,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM
• 4,200+ summary reports listing all known inherited disease mutations for a given gene characterized by four discrete variant types
• Advanced search functionalities, including the ability to find mutations based on the type of nucleotide or amino acid change, or their location in a specific motif, splice site, or regulatory region
• A mutation visualization tool which provides a graphical representation of the aligned DNA and protein sequences with color-coded mutated nucleotides for a selected gene
• Ability to export customized mutation tracks for use in 3rd party genome browsers and analysis tools
Access Options
Online
An online subscription provides access to the HGMD web interface. Online subscriptions are available at the single IP, concurrent user, academic / non-profit lab, and institution-wide level. The single IP, concurrent user, and academic / non-profit lab subscription levels require IP plus username/password authentication. IP only authentication is optionally available for the institution-wide subscription level.
Installed
An installed subscription allows for local installation of the HGMD relational database and web interface. A local installation allows you to query and extract all fields of HGMD data for integration into your own, or 3rd party, analysis pipelines and tools. However redistribution of, or public access to / display of, the data is not allowed without prior written consent. MySQL platform is supported.
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