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BIOBASE 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.

 

 

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 Genome Trax

Key Features

  • 152,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM
  • 5,300+ summary reports listing all known inherited disease mutations for a given gene characterized by six 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.

Academic research user?  Order now.
Commercial user/clinical, non-profit/academic service provider?  Request a quote.

Resources

Support Documents


Research / Whitepapers


Scientific Publications


Training

Release 2013.4 (February 2014) –  Watch video
Release 2013.3 (September 2013) – Watch video
Release 2012.4 – Watch video


Video Tutorials

Basic Search (ex. diabetes)
Search using gene symbol, chromosome coordinates, and MART.
>> Watch video

Advanced Search
Detailed searches for substitutions and micro-lesions such as small deletions, insertion and indels.
>> Watch video

Download (mySQL database)
Data table display based on SQL queries.
>> Watch video


Archived Webinars

How to Interpret Disease Mutation Data
Strategies for Drug Target Identification

>> View all webinars