Solve more cases faster, with data you can trust using HGMD Professional, the de facto standard resource for identifying inherited disease-causing mutations
When a family has a child with a rare undiagnosed condition or a couple is planning their next chapter, they want assurance that their doctors are considering every peer-reviewed paper and all available evidence in their quest for an answer.
HGMD Professional remains the largest, manually curated resource for finding disease-causing mutations. Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1996, the database attempts to collate all known (published) gene lesions responsible for human inherited disease, giving you the best possible chance of reaching a diagnosis.
Empower your clinical research and testing with the world’s largest database of inherited human mutations
All data is based on published, peer-reviewed literature that has been manually curated and evaluated for accuracy.
Every quarter, HGMD Professional content and functionality is updated to ensure you remain informed on the latest findings.
For certain mutations, HGMD Professional includes summaries of disease-associated/functional polymorphisms.
If you currently use the public version of HGMD, there is a lot of content that you are missing. Not only is the public version of the database three years behind in terms of published mutation entries, it lacks a multitude of search features critical to elucidating clinically significant associations.
For clinical labs looking to expand into hereditary disease testing, QIAGEN Clinical Insight (QCI) Interpret reproducibly translates highly complex NGS data into standardized reports using current clinical evidence from the QIAGEN Knowledge Base, which consists of over 40 public and proprietary databases, including HGMD Professional.
QCI Interpret for Hereditary Diseases delivers manually curated evidence directly to your pipeline. You receive links to all articles, auto-computed ACMG/AMP classifications, and access to over 1 million unpublished variant-phenotype relationships from the QIAGEN Knowledge Base.
Hear from Peter Stenson, manager of HGMD, as he discusses how HGMD has helped move precision medicine forward by providing translational research and diagnostic applications with the most comprehensive survey of literature on genetic mutations responsible for human inherited diseases.
Discover the difference of HGMD Professional with a free,
no-obligation trial of the industry-leading database.
Expand your clinical interpretation with expert-curated software for variant classification of any assay, covering any indication, on your sequencing platform
Reimagine your clinical interpretation with same day, expert variant classification services tailored to your oncology panel
Leverage the benefits of automation and expert support to improve test turnaround times and clinical reporting capabilities
Discover the difference of HGMD Professional with a free, no-obligation trial of the industry-leading database.