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Human Gene Mutation Database (HGMD) Professional

Solve more cases faster, with data you can trust using HGMD Professional, the de facto standard resource for identifying inherited disease-causing mutations

Leave no stone unturned

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.

Discover more disease-causing mutations

Empower your clinical research and testing with the world’s largest database of inherited human mutations

275,716

detailed mutation reports

All data is based on published, peer-reviewed literature that has been manually curated and evaluated for accuracy.

18,000+

new mutation reports per year

Every quarter, HGMD Professional content and functionality is updated to ensure you remain informed on the latest findings.

10,500+

detailed summary reports

For certain mutations, HGMD Professional includes summaries of disease-associated/functional polymorphisms. 

View the complete HGMD Professional database statistics here.

See what’s new in the latest HGMD Professional release (2019.4) here.

“QIAGEN’s HGMD provides us with access to curated, peer-reviewed evidence that will support more precise, comprehensive variant interpretation. Pairing that with QIAGEN’s automated and scalable informatics framework facilitates our day-to-day secondary and tertiary bioinformatics analyses, and will help improve the quality of care for patients.”

Stan Letovsky, PhD

Vice President of Data Sciences and Bioinformatics at LabCorp

The value of upgrading to HGMD Professional

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.

Expanding into clinical test reporting?

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.

 

ON-DEMAND WEBINAR 

HGMD: Empowering a Generation of Geneticists for Precision Medicine

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.

Interested in trying HGMD Professional?

Discover the difference of HGMD Professional with a free,

no-obligation trial of the industry-leading database.

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QCI Precision Insights

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Clinical Analysis and Interpretation Services

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System Requirements

HGMD Download

  • Windows system (Windows 7 recommended)
  • Linux system (Ubuntu 14.04 LTS recommended)
  • 1.5 GHz processor minimum, 2 GHz processor recommended
  • 2GB RAM minimum, 3GB RAM recommended
  • MySQL 5.x.x
  • At least 3GB free disk space

HGMD Online

  • Requires a browser with the Java plugin enabled

Interested in trying HGMD Professional?

Discover the difference of HGMD Professional with a free, no-obligation trial of the industry-leading database.