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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™.

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
  • Quickly prioritize mutations from whole exome or whole genome sequencing when used in combination with Variant Analysis

Key Features

  • 183,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM
  • 7,300+ summary reports listing all known inherited disease mutations for a given gene characterized by five different pathogenic variant classes
  • Advanced search functionality, 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.

Download
A download subscription allows for local installation of the HGMD® relational database. 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.  A download subscription does not provide access to the HGMD® web interface.

Click here for a table comparison of features available in online vs. download options.

 

Resources

Support Documents


Research / Whitepapers


Scientific Publications


Video Tutorials

Search by gene
Learn how to search for mutations using a gene as the starting point.
>> Watch video

Search by phenotype 
Learn how to search for genes and ultmately mutations using a phenotype as the starting point.
>> Watch video

Mutation report overview 
Learn about the types of information presented for each mutaton in the mutation report.
>> Watch video

HGMD mutation classification overview
Learn about the 5 classification categories for HGMD mutations.
>> Watch video

MySQL database
Learn about how the HGMD relational database can be queried using SQL.
>> Watch video


Archived Webinars

How to Interpret Disease Mutation Data
Strategies for Drug Target Identification

>> View all webinars