More mutations, better annotations
The Fall 2019 Release of the Human Gene Mutation Database (HGMD) Professional is available, expanding the world’s largest collection of human inherited disease mutations to over 269,000 entries–that’s 6,278 more than the previous release.
HGMD Professional is the de facto standard resource for comprehensive coverage of published germline mutations in nuclear genes that underlie, or are closely associated with, human inherited disease.
Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1996, HGMD Professional provides users with a unique resource that can be utilized not only to obtain evidence to support the pathological authenticity and/or novelty of detected gene lesions and to acquire an overview of the mutational spectra for specific genes, but also as a knowledgebase for use in bioinformatics and whole genome screening projects.
Expert-curated content updated quarterly
The number of disease-associated germline mutations published per year has more than doubled in the past decade (Figure 1). As rare and novel genetic mutations continue to be uncovered, having access to the latest scientific evidence is critical for timely interpretations of next-generation sequencing (NGS) data.
HGMD Professional helps clinical testing labs analyze and annotate next-generation sequencing (NGS) data with current and trusted information. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
- Mutation entries are manually curated and evaluated for consistency and accuracy
- Mutation reports contain links to the original source for full transparency
- 14,500+ publications cite HGMD
Read about the importance of having the latest clinical evidence in our HGMD white paper.
To get the most out of your HGMD Professional subscription, visit our Resources webpage for case studies, technical notes, and video tutorials. Or hear from Peter Stenson, manager of HGMD, in an on-demand webinar on how HGMD has empowered a generation of geneticists for precision medicine here.
New ANNOVAR databases are also available.
- All ANNOVAR databases are transferred to AWS S3, except for a few large (>100GB) files.
Need ACMG classifications to support your variant interpretation?
For labs looking to generate clinician-grade 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.
Click here for a free demonstration of QCI Interpret.
- American Society of Human Genetics (ASHG) Annual Meeting – October 15-19, 2019 | Houston, Texas
- Association for Molecular Pathology (AMP) Annual Meeting – November 7-9, 2019 | Baltimore, Maryland
- Genomic Medicine Nordic 2019 – November 13-14, 2019 | Copenhagen, Denmark
View all upcoming events here.