Today genetic innovation is advancing at breakneck pace. Since the first whole genome was sequenced in 2003, a feat that took 15 years, 20 different labs, and more than $3 billion to complete, a patient can now have his or her whole genome sequenced by one lab, in one day, for under $200.
Yet, only a fraction of patients receives genetic testing. Despite incredible advances in sequencing technology, most notable being next-generation sequencing (NGS), genetic has only recently become a clinical application. The challenge is no longer how to sequence DNA, but how to interpret a patient’s genetic variation in a meaningful and actionable way.
We are on the cusp of a healthcare revolution where genetic testing will be able to provide answers and insight into critical health questions. For a couple planning their family, genetic testing can identify carrier status. When a child has a rare condition with unexplainable symptoms, genetic testing can pinpoint a diagnosis. If a patient has a family history of cancer, genetic testing can predict the risk of developing disease.
A new reality is emerging in which genetic testing will transform our understanding and management of hereditary diseases. But before genetic testing becomes a routine part of clinical care for every patient, we must first address the complexity, cost, and consistency of NGS test interpretation.
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.
We are thrilled to be part of the announcement at ASHG 2016, detailing the new QIAseq® cfDNA All-in-One Kit — including the market’s first bioinformatics workflow for cell-free DNA.
With this streamlined testing solution researchers can now analyze cell-free DNA quickly, conveniently, and reliably to obtain accurate and meaningful results using any major sequencing platform. Researchers who are applying liquid biopsy methods in their work with NIPT or with hereditary and rare diseases can use this solution to address NGS bottlenecks while increasing the accuracy and sensitivity of their variant identification efforts.
We are proud to be furthering the use case for liquid biopsy, and are looking forward to hearing how others are using this tool in innovative ways at ASHG. Please stop by our booth #1234, where we’ll be hosting several presentations on Wednesday and Thursday.
Furthermore, QIAGEN unveiled an enhanced bioinformatics workflow for hereditary and rare diseases, offering unique capabilities for research using liquid biopsies in non-invasive prenatal testing (NIPT) as well as cancer biomarker discovery. QIAGEN is rolling out the solutions at the American Society of Human Genetics ASHG 2016 Annual Meeting in Vancouver.
“The new All-in-One Kit for extraction and library preparation delivers a powerful solution for researchers to maximize their discovery potential and accuracy of results from liquid biopsies, achieving breakthroughs in NGS detection of even the rarest variants. In tandem with new dedicated bioinformatics, our cfDNA kit is creating a true Sample to Insight experience for liquid biopsy analysis, efficiently delivering, accurate and meaningful results with any major sequencing platform,” said Brad Crutchfield, Senior Vice President of QIAGEN’s Life Sciences Business Area. “Also at ASHG 2016, QIAGEN Bioinformatics is introducing an enhanced analysis and interpretation workflow for identification of disease-causing variants in hereditary and rare diseases, useful in both NIPT and cancer research. NGS users are increasingly relying on QIAGEN’s growing portfolio of Sample to Insight solutions.”
The QIAseq cfDNA kit provides a complete solution, from plasma to NGS-ready libraries, to maximize cell-free DNA conversion and discovery potential for translational research using liquid biopsies. Building on proven QIAamp technology, the gold standard in cfDNA extraction, the All-in-One kit is the first kit to combine extraction and library preparation, making library prep more convenient, efficient and accurate for the demands of exome or whole genome sequencing.
QIAGEN also is unveiling its enhanced hereditary disease solution to provide a streamlined, easy-to-use analysis and interpretation workflow for NGS data from liquid biopsies. Use of small blood samples to detect disease-causing variants in circulating cfDNA offers advantages in neonatal testing or monitoring of cancer patients for translational research, but the NGS data can be difficult to analyze. QIAGEN’s bioinformatics solution enables labs to achieve more accurate detection and the highest sensitivity in identifying variants. Integrating Biomedical Genomics Workbench, Ingenuity Variant Analysis and other components, the solution addresses NGS bottlenecks and ensures that no pathogenic variant is missed.
QIAGEN will exhibit at booth #1234 during ASHG 2016, demonstrating the cfDNA Sample to Insight workflow, the enhanced hereditary disease solution and other tools. The company also will present an educational session, “Sample-to-Insight NGS Solutions: Multimodal Liquid Biopsy WGS, Trio and Family Analyses, and RNA-sequencing Analysis and Interpretation,” from 1:00 p.m. to 2:30 p.m. on Thursday October 20 in Room 13, Convention Centre East Building. For information please visit https://digitalinsights.qiagen.com.
About QIAGEN
QIAGEN N.V., a Netherlands-based holding company, is the leading global provider of Sample to Insight solutions that enable customers to gain valuable molecular insights from samples containing the building blocks of life. Our sample technologies isolate and process DNA, RNA and proteins from blood, tissue and other materials. Assay technologies make these biomolecules visible and ready for analysis. Bioinformatics software and knowledge bases interpret data to report relevant, actionable insights. Automation solutions tie these together in seamless and cost-effective workflows. QIAGEN provides solutions to more than 500,000 customers around the world in Molecular Diagnostics (human healthcare), Applied Testing (forensics, veterinary testing and food safety), Pharma (pharma and biotech companies) and Academia (life sciences research). As of June 30, 2016, QIAGEN employed approximately 4,600 people in over 35 locations worldwide. Further information can be found at https://www.qiagen.com.
Certain statements contained in this press release may be considered forward-looking statements within the meaning of Section 27A of the U.S. Securities Act of 1933, as amended, and Section 21E of the U.S. Securities Exchange Act of 1934, as amended. To the extent that any of the statements contained herein relating to QIAGEN's products, collaborations, markets, strategy or operating results, including without limitation its expected adjusted net sales and adjusted diluted earnings results, are forward-looking, such statements are based on current expectations and assumptions that involve a number of uncertainties and risks. Such uncertainties and risks include, but are not limited to, risks associated with management of growth and international operations (including the effects of currency fluctuations, regulatory processes and dependence on logistics), variability of operating results and allocations between customer classes, the commercial development of markets for our products to customers in academia, pharma, applied testing and molecular diagnostics; changing relationships with customers, suppliers and strategic partners; competition; rapid or unexpected changes in technologies; fluctuations in demand for QIAGEN's products (including fluctuations due to general economic conditions, the level and timing of customers' funding, budgets and other factors); our ability to obtain regulatory approval of our products; difficulties in successfully adapting QIAGEN's products to integrated solutions and producing such products; the ability of QIAGEN to identify and develop new products and to differentiate and protect our products from competitors' products; market acceptance of QIAGEN's new products and the integration of acquired technologies and businesses. For further information, please refer to the discussions in reports that QIAGEN has filed with, or furnished to, the U.S. Securities and Exchange Commission (SEC).
On September 25-29, 2016, the 28th Congress of the European Society of Pathology will take place in Cologne, Germany. For the first time the congress will be arranged as a joined venture with the XXXI International Congress of the International Academy of Pathology.
We're looking forward to meet you there and present QIAGEN Clinical Insights and our solutions for hereditary diseases.
Would you like to know more the GeneReader NGS System and our Sample to Insight solution? You're welcome to join our symposium:
Time and date: September 26 from 1:00 p.m. to 2:30 p.m.
Location: Congress Hall 3
Program:
The new NGS solution to investigate cancer - QIAGEN’s sample to insight approach
Salim Essakali, QIAGEN, Germany
The GeneReader NGS System: experience of a complete NGS workflow solution
Margarethe Odenthal, PD. Dr., Pathology Institute, Universitätsklinikum Cologne, Germany
Qiagen Clinical Insight – Clinical interpretation and reporting of complex NGS data made simple
Ian Cook, Advanced Genomics Clinical Sales Specialist, QIAGEN
Learn more about our hereditary disease solution
Get more details about ESP
We are pleased to announce the launch of our new end-to-end solution for hereditary diseases; an offering including Biomedical Genomics Workbench, Biomedical Genomics Server Solution, Ingenuity® Variant Analysis™, and HGMD®.
This new solution addresses the NGS analysis bottleneck by delivering seamless and highly accurate end-to-end workflows for the identification and interpretation of causal variants in hereditary and rare diseases from NGS data.
For more information on the solution, please read the official press release below.
Press Release
QIAGEN launches new bioinformatics solution for hereditary diseases
Enhancing and accelerating analysis and interpretation of next-generation sequencing data
Baltimore, Maryland, and Hilden, Germany, October 5, 2015 – QIAGEN N.V. (NASDAQ: QGEN; Frankfurt Prime Standard: QIA) today announced the launch of a new QIAGEN hereditary disease solution for research labs to accelerate solve rates in diagnostic odyssey cases, while freeing up time and resources by enabling researchers to directly focus on the right causal candidates. The offering includes QIAGEN’s Biomedical Genomics Workbench, Biomedical Genomics Server Solution, Ingenuity® Variant Analysis™, and HGMD® Human Gene Mutation Database. The new end-to-end solution is rolling out this week at the American Society for Human Genetics (ASHG) Annual Meeting in Baltimore.
“QIAGEN continues to expand our solutions to enable the incredible advances that clinical research labs are making every day, particularly in next-generation sequencing for hereditary diseases,” said Dr. Laura Furmanski, Head of QIAGEN’s Bioinformatics Business Area. “By providing the market’s most comprehensive biomedical content, more than 10 million findings in our QIAGEN Knowledge Base, and the benefits of 16 years of experience in expert curation, we ensure the highest-quality analysis and interpretation – helping customers move from Sample to Insight.”
QIAGEN’s hereditary disease solution addresses the NGS analysis bottleneck by delivering seamless and highly accurate end-to-end workflows for the identification and interpretation of causal variants in hereditary and rare diseases from NGS data. A laboratory using this new hereditary disease solution can achieve a case solve rate as high as 99%, while significantly reducing the rate of irrelevant variants for follow-up by 94% to 100%. These close to perfect solve rates are not possible using any other bioinformatics solution available in the market today, according to the latest benchmarking study that QIAGEN will present at ASHG. The solution is cost-effective and can handle a high volume of samples (for example, 18,000 whole genomes per year). In addition, the QIAGEN Knowledge Base enables collaborative progress for clinical research labs that share information on hereditary diseases in datasets such as the Allele Frequency Community.
“The ability to differentiate between a mutation you might expect to see by chance and a mutation that is potentially disease-causing requires context from as many genomes as possible,” said Dr. Christopher Mason, assistant professor in the Institute for Computational Biomedicine at Weill Cornell Medical College. “With the Allele Frequency Community, you immediately get access to hundreds of collaborators who are sharing this data openly and transparently. It’s a big step forward.”
QIAGEN will be exhibiting the hereditary disease solution during ASHG at booth #1622, demonstrating Biomedical Genomics Workbench, Biomedical Genomics Server Solution, Ingenuity Variant Analysis and HGMD. In addition, several experts are participating in educational sessions and poster presentations. Among them:
October 6, 10:20 a.m. – 10:30 a.m., HGVS (Human Genome Variation Society) meeting, Chesapeake Room, Holiday Inn Baltimore Inner Harbor:
October 7, 1:00 p.m. – 2:30 p.m., Loch Raven room, 2nd floor, Sheraton Inner Harbor Hotel:
October 8, 1:00 p.m. – 2:30 p.m., Baltimore Convention Center:
October 8, 11:00 a.m. – 1:00 p.m., three poster presentations:
Participants also can visit QIAGEN’s booth #1621, across the aisle from QIAGEN Bioinformatics, to learn about Sample to Insight solutions for exosomes, FFPE, circulating nucleic acids and single cells.
QIAGEN’s integration of Ingenuity Systems, CLC bio and BIOBASE has created the industry-leading provider of integrated bioinformatics solutions and expertly curated content. For more information, on the QIAGEN hereditary disease solution or a demonstration or a trial of these products, please visit QCI Interpret for Hereditary Disease.
About QIAGEN
QIAGEN N.V., a Netherlands-based holding company, is the leading global provider of Sample to Insight solutions to transform biological materials into valuable molecular insights. QIAGEN sample technologies isolate and process DNA, RNA and proteins from blood, tissue and other materials. Assay technologies make these biomolecules visible and ready for analysis. Bioinformatics software and knowledge bases interpret data to report relevant, actionable insights. Automation solutions tie these together in seamless and cost-effective molecular testing workflows. QIAGEN provides these workflows to more than 500,000 customers around the world in Molecular Diagnostics (human healthcare), Applied Testing (forensics, veterinary testing and food safety), Pharma (pharmaceutical and biotechnology companies) and Academia (life sciences research). As of June 30, 2015, QIAGEN employed approximately 4,400 people in over 35 locations worldwide. Further information can be found at http://www.qiagen.com.
Certain of the statements contained in this news release may be considered forward-looking statements within the meaning of Section 27A of the U.S. Securities Act of 1933, as amended, and Section 21E of the U.S. Securities Exchange Act of 1934, as amended. To the extent that any of the statements contained herein relating to QIAGEN's products, markets, strategy or operating results, including without limitation its expected operating results, are forward-looking, such statements are based on current expectations and assumptions that involve a number of uncertainties and risks. Such uncertainties and risks include, but are not limited to, risks associated with management of growth and international operations (including the effects of currency fluctuations, regulatory processes and dependence on logistics), variability of operating results and allocations between customer classes, the commercial development of markets for our products in applied testing, personalized healthcare, clinical research, proteomics, women's health/HPV testing and nucleic acid-based molecular diagnostics; changing relationships with customers, suppliers and strategic partners; competition; rapid or unexpected changes in technologies; fluctuations in demand for QIAGEN's products (including fluctuations due to general economic conditions, the level and timing of customers' funding, budgets and other factors); our ability to obtain regulatory approval of our products; difficulties in successfully adapting QIAGEN's products to integrated solutions and producing such products; the ability of QIAGEN to identify and develop new products and to differentiate and protect our products from competitors' products; market acceptance of QIAGEN's new products, the consummation of acquisitions, and the integration of acquired technologies and businesses. For further information, please refer to the discussions in reports that QIAGEN has filed with, or furnished to, the U.S. Securities and Exchange Commission (SEC).
