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. High-throughput mapping of HGMD® mutations for NGS variant analysis is provided in the companion Genome Trax offering.
HGMD is now integrated with Ingenuity Variant Analysis. The combination of analytical tools and 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. Together, Ingenuity Variant Analysis with HGMD integrated offers the most reliable, high-quality and comprehensive resource available for understanding your sequencing data.