Introducing disease mutations to genetics and genomics research
Now celebrating our 100,000 mutation milestone!
Product Overview
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, such as checking whether a mutation is novel, and advanced search applications, such as finding all mutations linked to a certain disease. 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
A subscription to HGMD® Professional provides you with:
- Up-to-date human inherited disease mutations from the scientific literature (with PubMed links) sorted by type of mutation and searchable by a range of criteria including chromosomal location, disease association, and more.
- Summary reports for over 3800 genes, listing all mutations associated with the gene as well as sequence, disease, and GO information.
- Mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM.
- 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
- Mutation viewer - a graphical representation of the aligned DNA and protein sequences with indicated mutated nucleotides in different colors for a selected gene.
For a brief overview of the scope and features of HGMD® Professional, please watch the short video below. If you're interested in a more detailed walk through of the features of the HGMD® Professional interface, please watch the full feature video accessible here.
Applications of HGMD® include:
- Determining the novelty of identified gene mutations
- Obtaining an overview of all known mutations for a given gene or all mutated genes for a disease of interest
- Mapping mutations to a full genome sequence
Advanced Search
The advanced search feature allows the user to search for mutations by:
- Location in a particular motif
- Type of nucleotide or amino acid substitution
- Location within a splice site or regulatory region
- Chromosomal location or specific coordinates
- And more!
Example results from the HGMD Advanced Search feature are available.
Learn more about the benefits of an HGMD professional subscription.
Contact Us
For an introductory tour through the database, please contact our sales team.
HGMD is a registered trademark of Cardiff University. It was founded by Profs. David N. Cooper and Michael Krawczak in 1996.
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