- Do you need to verify that an observed mutation is associated with a particular human inherited disease?
- Are you researching a specific gene or disease and want to know its pathogenic mutational spectrum?
- Do you want reliable and frequently updated mutation data in order to perform thorough variant annotation?
The Human Gene Mutation Database (HGMD) is the long-lived gold standard resource for human hereditary disease mutation data. HSLS MolBio has provided limited access to HGMD Professional for many years (the Products Overview table shows the differences between the public and pro versions). Thanks to funding support from the Institute for Precision Medicine, we are pleased to announce an expansion of our licensing agreement with QIAGEN so that more Pitt researchers are able to use this comprehensive tool simultaneously. If you are a bioinformatician, clinical geneticist, diagnostician, or genetic counselor and are not already familiar with HGMD, now is the time to explore it! Register for access via the HSLS site license.
The variant classes of mutations covered in HGMD include disease-causing mutations (DM) and likely DMs, disease-associated polymorphisms (DP) and DPs with functional evidence, and in vitro or in vivo functional polymorphisms. HGMD creates a new entry upon reviewing every published article that describes a germline mutation and convincingly demonstrates an association with a specific disease or phenotype. As of version 2020.4, there are 307,366 detailed mutation reports, 30K+ new mutation reports per year (added quarterly), and 11K+ detailed summary reports. This level of curation and coverage enables you, the researcher, to decrease the amount of time you spend searching for and collecting quality information about inherited disease mutations in the scientific literature.
Numerous support resources are available to help you take full advantage of HGMD’s rich content:
- On-demand webinar with a live demo of how to use the online interface and downloadable database
- Technical note on using HGMD mutation data within popular variant annotation tools
- White paper on avoiding a knowledge blind spot
- Case study on how Rockefeller University scientists used HGMD to build mutation analysis tools
- Video tutorials for searching by gene, mutation, or phenotype and overviews of gene reports, mutation reports, and HGMD mutation classification
- User manual and FAQs
- Published paper about HGMD
- Consultations with HSLS MolBio—please feel free to contact us with any questions!
~Carrie Iwema