HGMD® Professional is the gold standard resource for comprehensive data on published human inherited disease mutations. It has been an essential tool in analyzing the genomes of thousands of individuals and is widely used in genetics and genomics research today. The easy to use online interface enables quick look up of individual mutations and well as advanced search applications for identifying all published mutations known to be associated with a particular gene or disease, that disrupt a splice donor or acceptor site, result in a specific amino acid change and much more. For high-throughput mapping of HGMD® mutations in NGS variant analysis, HGMD® content is now integrated with Ingenuity Variant Analysis. The unique combination of analytical tools plus content helps you rapidly identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based both upon published biological evidence and your own knowledge of disease biology.
Already have an in-house NGS variant analysis pipeline? The HGMD® data download option provides full flexibility to integrate HGMD® mutation data into your own and select 3rd party programs and tools. It’s also optimized to work with ANNOVAR™, the command line Perl program for functionally annotating genetic variants when licensed as part of the Genome Trax™ data package.