HGMD chosen to support Genomics England’s
bold 5 million genomes in 5 years


“Our experience of using QIAGEN’s HGMD, a component of QCI,
for the 100,000 Genomes Project guided our decision to continue to rely upon this industry-leading resource.
Next-generation sequencing is a valuable tool for diagnosing and suggesting potential treatment approaches,
but it is critical for healthcare providers to be able to interpret NGS data in the context of the vast body
of knowledge from research and clinical experience. The exhaustive knowledge in QIAGEN’s bioinformatics tools
enables us to do this, by providing the best possible care.”

– Augusto Rendon, Director of Bioinformatics and Genomics England

Inherited disease
mutation content

Having been cited in more than 14,500 scientific publications, HGMD® is the gold standard industry-leading resource for comprehensive coverage of published human inherited disease mutations. Whether searching for an overview of known mutations associated with a particular disease, interpreting clinical test results, looking for the likely causal mutation in a list of variants, or seeking to integrate mutation content into your custom NGS pipeline or data repository – HGMD is a flexible resource that can be adapted to a broad range of applications.

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HGMD professional provides the most comprehensive database of human disease associations and is an invaluable resource in both clinical and research-grade genetics and genomics activities.

Dr. Ali Torkamani, Chief Science Officer at Cypher Genomics

Academic & Research Use

Because HGMD Professional is such a powerful and flexible tool,
we provide full HGMD Professional licenses to qualified non-clinical,
academic researchers, for research use only, at a significantly reduced price.

Same great content for a fraction of the cost!

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Trust in the gold standard for mutation content


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


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