The Summer 2020 Release of the Human Gene Mutation Database (HGMD) Professional is available, expanding the world’s largest collection of human inherited disease mutations to 289,346 entries–that’s 6,451 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 2019 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.
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
NEW! HGMD on-demand webinar
In our new on-demand webinar, you will discover the power of HGMD Professional and see why reference labs around the world, such as LabCorp and Genomics England, use HGMD Professional in their clinical test interpretation. Through a live demonstration, you will learn how to use the online interface and downloadable database, as well as how to use HGMD Professional and ANNOVAR to produce a powerful in-house variant interpretation solution.
Watch the webinar here.
An updated version of ANNOVAR is also available.
Learn more about how ANNOVAR can be used with HGMD for variant annotation. Watch a recorded webinar featuring ANNOVAR here.
The Genome Trax™ 2020.2 is now available. Updated tracks have been released with HGMD 2020.1 content for all HGMD-related tracks. Additional major updates include TRANSFAC® release 2020.2, and PROTEOME™ release 2020.2.
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.
We are proud to share an article written by Ramon Felciano, Chief Technology Officer and Vice President, Strategy & Technology, QIAGEN Bioinformatics, that was featured in The Pathologist, a UK-based publication that considers the latest research and innovation in pathology and diagnostics. Titled “Deciding Factors,” the article shines a light on new trends in clinical labs that are improving the accuracy and efficiency of genetic test interpretation. It argues that these advances are made possible with clinical decision support (CDS) tools, which incorporate big data, sophisticated informatics, and augmented intelligence (as opposed to artificial intelligence), to better inform treatment decisions, manage liability risk, and ensure compliance with ever-changing data privacy regulations.
The adoption and implementation of CDS tools is no longer a luxury, but rather a necessity. Just a few years ago in the United States, only pre-eminent academic medical centers offered precision medicine. As stated in the article, “Today, an estimated 24 percent of hospitals will provide some form of precision medicine by the end of 2018.”(1) With the use of CDS tools and related technologies gaining traction, clinical teams need to ensure they select support tools that provide maximum interpretation transparency and detailed reporting. Dr. Felciano explains how CDS tools are personnel assets—not replacements—that enhance productivity, reliability and the practice of precision medicine.
(1)N. Versel, “Data requirements, money hold back growth of precision medicine among health systems” (2018). Available at: https://bit.ly/2qFSb60. Accessed April 18, 2018.
We were honored to take part in last month’s Personalized Medicine World Conference (PMWC), where speakers and attendees focused on critical areas such as liquid biopsies, pathology, immuno-oncology, next-generation sequencing, and more.
Sean Scott, VP, New Ventures here at QIAGEN Bioinformatics, presented a talk on “Enabling precision medicine in oncology through scalable NGS-based test interpretation and actionable reporting.” Sean has presented at the PWMC event for the past four years and this event continues to grow in importance. If you couldn’t make it to the event, here’s a quick recap of his presentation.
Sean reviewed current trends and shifts in NGS-based testing of cancer patients, noting the significant improvement in our ability to treat this disease by using genomic information. He walked through some of the challenges facing clinical testing labs, such as scientific and technical complexity of NGS tests, the operational scale challenges with NGS tests, the opportunity for labs to differentiate their test offerings through bioinformatics and data aggregation, as well as continued uncertainty in reimbursement hurdles.
Sean showcased the value of the QIAGEN Clinical Insight platform in enabling clinical labs in scaling their test analysis, interpretation and reporting in both somatic and inherited/germline cancers. He also presented on QIAGEN’s strategy for de-identified genomic data and progress with the Allele Frequency Community, an opt-in community co-founded by QIAGEN Bioinformatics that allows labs to share allele frequency statistics for the benefit of patients and clinical research, and the INOVA Compendium.
As always, the PMWC event was an excellent event. If you couldn’t make it this year, we hope to see you there next year!
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