Over 9,000 disease-associated germline mutations have been added to the industry-leading database
HGMD Professional 2024. 2 is now available, adding 9,075 new gene mutation entries to the world’s largest collection of expert-curated data on germline mutations in nuclear genes underlying or associated with human inherited disease. The new summer 2024 release brings the total of disease-associated germline mutations in HGMD Professional to 519,879 entries!
What is HGMD Professional?
The Human Gene Mutation Database (HGMD) is a unique database that provides clinical labs with the latest and most reliable insights into disease-associated variants. The database was founded by the Institute of Medical Genetics at Cardiff University in 1996 with the goal of facilitating the scientific study of mutational mechanisms in human genes underlying inherited disease. However, over the last 25 years, it has acquired a much broader utility, as it has become the central unified repository for disease-related genetic variation in the germline.
Today, two versions of the database are offered: HGMD (a free, publicly available database) and HGMD Professional (a stand-alone web application, made available under license exclusively from QIAGEN). HGMD Professional is the version of the database most appropriate for clinical applications, as the professional version is three years ahead of the public version in terms of content. It’s important to understand that the mutation data in HGMD Professional is made freely available via the public version of HGMD three years after initial inclusion. Therefore, if your lab needs access to up-to-date mutation data, HGMD Professional provides content from the latest publications.
HGMD Professional: Expert-curated content, updated quarterly
HGMD Professional is maintained and manually curated by a team of variant scientists and bioinformaticians at Cardiff University. These expert curators, each certified and trained in germline variant curation with an average of more than 12 years experience in curation, screen peer-reviewed biomedical literature on an ongoing basis through a combination of automated and manual processes. Currently, HGMD Professional contains data derived from over 72,000 manuscripts published in more than 3100 different journals.
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, HGMD Professional ensures your lab has access to the latest scientific evidence needed for timely interpretations of NGS data.
What's new in HGMD Professional 2024.2?
In the new HGMD Professional 2024.2 release, more than 9,000 mutation entries have been added to the database.
- Missense/nonsense mutations: 5406
- Splicing mutations: 765
- Small deletions: 1544
- Small insertions/duplications: 775
- Small indels: 100
→ View the complete HGMD Professional 2024.2 data updates here.
Want to learn more about HGMD Professional?
The advantages of using HGMD Professional is that it offers comprehensive coverage (on over 500,000 germline mutations that have been reported in the literature), expert curation, quarterly updates, and clinical utility (providing information on the clinical significance of germline mutations, including disease association, inheritance patterns, and pathogenicity).
To demonstrate the quality of utility of HGMD Professional, QIAGEN Digital Insights offers free, no-obligation 5-day trials of the licensed database.