The Fall 2021 Release of the Human Gene Mutation Database (HGMD) Professional is now available, expanding the world’s largest collection of human inherited disease mutations to 344,012 entries–that’s 20,351 more than the previous release.
For over 30 years, HGMD Professional has been used worldwide by researchers, clinicians, diagnostic laboratories and genetic counselors as an essential tool for the annotation of next-generation sequencing (NGS) data in routine clinical and translational research. Founded and maintained by the Institute of Medical Genetics at Cardiff University, HGMD Professional provides users with a unique resource containing expert-curated mutations all backed by peer-reviewed publications where there is evidence of clinical impact.
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 the defacto-standard repository for heritable mutations that can be adapted to a broad range of applications.
detailed mutation reports
new mutation entries in 2020 alone
summary reports listing all known
inherited disease mutations
HGMD is powered by a team of expert curators at Cardiff University. Data are collected weekly by a combination of manual and computerized search procedures. In excess of 250 journals are scanned for articles describing germline mutations causing human genetic disease. The required data are extracted from the original articles and augmented with the necessary supporting data.
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.
View the complete HGMD Professional statistics here.
Join us for a webinar on October, 21, 2021, as our experts will show you how HGMD Professional simplifies and streamlines variant classification in hereditary workflows.
Read more about the importance of having access to the most up-to-date and comprehensive database for human disease mutations in our white paper.
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.
To get the most out of your HGMD Professional subscription, visit our Resources webpage for case studies, technical notes, and video tutorials.
There are few meetings as important to the bioinformatics community as Intelligent Systems for Molecular Biology (ISMB), which is celebrating its 25th year at the upcoming event in Prague to be held July 21-25. Organized by the International Society for Computational Biology, ISMB is known for its wide range of presentations, from big-picture keynotes to its targeted “birds of a feather” discussions and much more. We love attending this conference as a way to connect with other bioinformatics geeks and hash out (bad pun fully intended) best practices for computational biology.
This year’s ISMB will be held in conjunction with the European Conference on Computational Biology. Organizers announced 14 communities of special interest (COSIs) that will be running themes throughout the event; examples include structural bioinformatics, visualization of biological data, and bioinformatics education.
Another COSI focuses on methods for understanding the impacts of genetic variation. In the VARI-COSI workshop taking place all day July 24, experts will offer a number of presentations and discussions on relevant topics. Our own Anika Joecker, Director of Clinical Partnering Bioinformatics, will give a talk entitled “The importance of using a most comprehensive knowledgebase for the identification of pathogenic variants in cancer and inherited diseases.” She’ll speak about HGMD as well as the QIAGEN Knowledge Base, which contains hundreds of thousands of manually curated pathogenic variants associated with oncology and inherited disease. The session will include real-world examples showing how scientists have used QIAGEN Clinical Insight Interpret and Ingenuity Variant Analysis to improve diagnosis and treatment for patients.
If you’re attending ISMB this year, enjoy!
