HGMD remains the largest, most consulted resource for finding disease-causing mutations. Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1999, the database contains over 269,000 manually curated mutation reports from over 2,600 peer-reviewed journals.
“Our experience of using QIAGEN’s HGMD for the 100,000 Genomes Project guided our decision to continue to rely upon this industry-leading resource.”
Augusto Rendon, Director of Bioinformatics and Genomics England
Using HGMD can bring a lot of benefits and added value to your lab’s research, but HGMD Professional gives your lab the confidence and opportunity to do more.
See what you’re missing
Find disease-causing variants faster and with fewer false leads using Ingenuity Variant Analysis (IVA), a software-as-a-service that taps into the knowledge of millions of scientific findings, including HGMD Professional, to help you zero-in on causal variants.
For labs looking to generate clinician-ready reports for germline or somatic NGS 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.
The HGMD data download option provides full flexibility to integrate HGMD mutation data into your own and select third party programs and tools.