HGMD

Fast-track inherited disease insights from your variant data with HGMD Pro

4 views
September 29, 2025

From clinicians to translational researchers to drug developers, everyone is feeling the pressure to match patients with the right therapy faster. The challenge intensifies with rare and inherited diseases, where information is limited and affected individuals are few and scattered across the world.

 

But you can cut weeks from your variant interpretation workflow – without compromising accuracy. On September 24, see how Human Gene Mutation Database (HGMD) Professional can shorten the path to germline variant insights using expert-curated data. Explore almost 30 years of curated variant knowledge, spanning over 17,600 genes and more than 38,000 phenotypes.

 

Learn how you can use HGMD Pro to:

 

• Distinguish clinically significant variants from VUS  

• Use batch search vs. advanced search  

• Curate genes using HGMD Pro’s accurate, up-to-date information  

• Identify the predominant genetic variant in a specific gene to understand the genetic mechanisms underlying associated diseases  

• Answer other variant-related questions

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