The Spring 2020 Release of the Human Gene Mutation Database (HGMD) Professional is available, expanding the world’s largest collection of human inherited disease mutations to 282,895 entries–that’s 7,179 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. 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.
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.
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™ 2020.1 is now available. Updated tracks have been released with HGMD 2020.1 content for all HGMD-related tracks. Additional major updates include TRANSFAC® release 2020.1, and PROTEOME™ release 2020.1.
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.
The Winter 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 275,000 entries–that’s 11,699 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.
A subset of the HGMD gross deletions has now been mapped to both builds of the reference genome (NCBI38/hg38 and legacy NCBI37/hg19). Due to the absence of accurate breakpoint data for most of these lesions, 3,348 entries have been mapped in this release. HGVS nomenclature is also provided for this dataset.
In addition to the standardized HGVS descriptions provided by HGMD, users can now view predicted HGVS nucleotide-level descriptions based on non-canonical RefSeq and Ensembl transcripts.
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 knowledge base for use in bioinformatics and whole-genome screening projects. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
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.
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. 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.
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.
Learn more about how ANNOVAR can be used with HGMD for variant annotation. Watch a recorded webinar featuring ANNOVAR here.
The Genome Trax™ update will roll out at the end of January, 2020. Updated tracks have been released with HGMD 2019.4 content for all HGMD-related tracks.
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.
Austin, here we come!
We’re getting AMPed up for the upcoming Association for Molecular Pathology 2015 annual meeting! Held at the Austin Convention Center from November 5-7, AMP offers molecular pathologists the chance to catch up on the latest industry and research developments.
This year, AMP’s theme is “Realizing the Dream of Precision Medicine,” and we couldn’t imagine a more timely topic. Precision medicine is becoming a reality, and we’re proud to be forging the tools for this revolution, particularly where cancer is concerned.
Our theme for AMP is “Insights in Oncology,” and we’ll be focusing on both somatic and hereditary cancers during the show. In addition to several key news announcements, we’ve scheduled a number of activities for AMP attendees. We hope you’ll stop by to hear our speakers and check out our demos. Here are some events where you can find us during AMP:
Workshop:
November 4, 4:00-4:50 p.m.
Austin Convention Center, Grand Ballroom E
“Practical Considerations When Using a Clinical Decision Support System for NGS Variant Analysis, Interpretation, and Reporting”
Speakers: Andrea Ferreira-Gonzalez, PhD, Director Molecular Diagnostics Lab, Chair Molecular Diagnostics Division, Virginia Commonwealth University; Jason D. Peterson, M.S., Genomic Informaticist, Clinical Genomics and Advanced Technology (CGAT), Dartmouth-Hitchcock Medical
Dr. Ferreira-Gonzalez and others will discuss practical aspects involved during the evaluation and use of NGS data analysis tools in the clinical laboratory. Learn about their firsthand experiences with QIAGEN® Clinical Insight – a new, scalable clinical decision support platform intended to assist molecular pathologists in interpreting and reporting NGS variants from any targeted gene panel run on any next-gen sequencing instrument.
Evening reception:
November 4, 6:30 -8:30 p.m.
Hilton Austin, Salon A & B, 500 E 4th St, Austin, TX 78701
Networking event with QIAGEN executives
RSVP required: NATradeshows@qiagen.com
In-booth presentations:
November 5, 3:45-4:00 p.m. and November 6, 9:45-10:00 a.m.
Booth #922 and #923 — QIAGEN Bioinformatics
“Enabling Precision Medicine – Through Scalable NGS Assay Interpretation & Reporting in Oncology”
Speaker: Dan Richards, PhD, VP of Biomedical Informatics, QIAGEN
Next-generation sequencing (NGS) based clinical tests are increasingly being adopted in clinical labs, but there are significant challenges in unraveling the complexity of genetic information to offer actionable insights for healthcare professionals. The time spent on assessment of NGS variants continues to be a rate-limiting step to reporting. To address this issue, in May 2015 the American College of Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) developed and published standards for the classification of sequence variants. The computational assessment of NGS variants according to ACMG and AMP guidelines promises to significantly reduce the amount of time from sequence result analysis to reporting. In this presentation, Dr. Dan Richards will discuss our manual curation and data-driven approach to pathogenicity classification using QIAGEN® Clinical Insight, a clinical decision support software tool developed to streamline the variant interpretation and reporting process for clinical laboratories. QIAGEN Clinical Insight leverages the comprehensive QIAGEN Knowledge Base with over 10 million biomedical findings of curated data to compute classifications based on the ACMG-reported criteria and classification system.
Learn more about QIAGEN Clinical Insight
Simple, secure, and scalable interpretation workflow
We are delighted to announce that we’ve expanded our QIAGEN® Clinical Insight™ (QCI™) solution to address the NGS interpretation and reporting needs of clinicians in oncology labs around the globe.
For germline cancers, we introduce the QCI Interpret for Hereditary Cancer solution, an evidence-based clinical decision support application. By evaluating genomic variants against a wealth of resources - including published biomedical literature, professional association guidelines, publicly available databases and annotations, drug labels, and clinical trials - this simple, secure, and scalable interpretation workflow provides a “one-stop shop” alternative to researching and scoring NGS variants from clinical workflows at countless sites and databases.
Increase your operational efficiency
We’ve also made the platform easy to personalize for your specific needs by providing the ability to build your own experience-based database with the variants you’ve assessed, which will increase the speed and accuracy of subsequent interpretations. We believe that QCI Interpret can increase your operational efficiency by reducing time, costs, and complexity to classify pathogenic variants, ultimately allowing you to focus your interpretation time on the high-risk variants that inform patient-specific medical management plans. The accuracy of risk assessment and resulting recommendations for screening enabled by QCI Interpret could mitigate cancer risk, either delaying its onset or detecting it at an earlier, more treatable stage.
Enabling the actual insights
The user-friendly interface was designed specifically for clinical lab teams, one of which is led by Dr. Madhuri Hegde, Professor of Human Genetics at the Emory University School of Medicine and Executive Director of the Emory Genetics Laboratory. “Clinical labs rolling out NGS-based tests are confronted with two key challenges: the complexity of turning molecular profiling information into precise medical recommendations, and the time and effort it takes to generate actionable reports,” Dr. Hegde commented. “QIAGEN Clinical Insight provides a rich and detailed, yet very clear and concise report that suggests management and treatment options based on the patient’s gene variations that profile their disease and outline causal links. It is this kind of interpretation that gives clinical value to the data, and what enables the actual insights into a patient’s specific disease and treatment options.”
QCI enhancements
For somatic cancer, we also announced updates to our Clinical Insight platform for somatic and inherited cancer testing, which launched in June 2015. The QCI enhancements include insights for diagnostic testing as well as monitoring and progression, support for copy number variations (CNVs) and fusion genes, and additional prognostics data from the literature. QCI now provides comprehensive cover of FDA- and EMA-approved drug labels, NCCN, ASCO and ESMO professional guidelines, and active genotype-related clinical trials to compliment literature reference and reported case databases.
The enhancements also add 32 hereditary cancer genes to QCI’s coverage, providing a more complete solution for laboratories to interpret and report on germline variants, including support for NGS comprehensive cancer panels testing for both somatic and inherited cancers. QCI now includes comprehensive curation of the hereditary cancer literature and curated clinical case counts for common heritable cancers including breast and ovarian cancer, Lynch syndrome, Peutz-Jegher syndrome, ataxia telangiectasia, neurofibromatosis, hereditary diffuse gastric cancer, familial prostate cancer, polyposis, and many more.
Read the press release
Learn more about QIAGEN Clinical Insight Interpret for Hereditary Cancer
Learn more about QIAGEN Clinical Insight Interpret for Somatic Cancer
