Recently, there have been many noteworthy papers citing QIAGEN CLC Genomics Workbench, a comprehensive, easy-to-use toolbox that ensures continuity in your NGS workflow. Here, we round up just a few of them to offer a sense of the diversity of the research for which QIAGEN CLC Genomics Workbench makes a difference. Below are some examples of how researchers from all over the world use this solution as a tool for metagenomic analysis to characterize dengue viruses and pathogens, create de novo assemblies or investigate ocular diseases.
Genomic characterization of SARS-CoV-2 identified in a reemerging COVID-19 outbreak in Beijing's Xinfadi market in 2020
First author: Yong Zhang
Should we be looking for new mutations in SARS-CoV-2 that make it more virulent? Researchers from the Chinese Center for Disease Control and Prevention perform genomic characterization of SARS-CoV-2 identified in a reemerging outbreak in China. Discover how they use QIAGEN CLC Genomics Workbench to help trace the source of the virus in this second outbreak in Beijing’s Xinfadi market. Read their full article here.
Genetic tracing of HCoV-19 for the re-emerging outbreak of COVID-19 in Beijing, China
First author: Jing Yang
Crucial coronavirus research from the Chinese Academy of Sciences looking into the re-emergence of the SARS-CoV-2 virus in China. Discover how they use the nanopore and MiSeq system together with QIAGEN CLC Genomics Workbench to trace the source of the virus in this second outbreak in Beijing. Get the full article here.
Systematic reconstruction of the complete two-component sensorial network in Staphylococcus aureus
First author: B. Rapun-Araiz
High-impact research by B. Rapun-Araiz and colleagues at Universidad Publica de Navarra in Spain who investigate the targets of two-component signal transduction systems (TCSs) in bacteria. See how they use QIAGEN CLC Genomics Workbench to map the complete TCS regulon in Staphylococcus aureus. Read the full paper here.
Remdesivir inhibits SARS-CoV-2 in human lung cells and chimeric SARS-CoV expressing the SARS-CoV-2 RNA polymerase in mice
First author: Andrea J. Pruijssers
Excellent research by A. Pruijssers and colleagues at Vanderbilt University who study how Remdesivir inhibits SARS-CoV-2 in human lung cells. See how they use QIAGEN CLC Main Workbench to help investigate the efficacy of Remdesivir against SARS-CoV-2 in vitro and in vivo. Read the full article here.
Lysosomal recycling of amino acids affects ER quality control
First author: Ryo Higuchi-Sanabria
Exciting research from the Howard Hughes Medical Institute, where researchers investigate the role of lysosomes in amino acid recycling. Learn how they use QIAGEN CLC Genomics Workbench to understand how reduced lysine and arginine can cause increased sensitivity to proteotoxic stress in the endoplasmic reticulum (ER). Read the full paper here.
Identifying SARS-CoV-2 related coronaviruses in Malayan pangolins
First author: Tommy Tsan-Yuk Lam
Coronavirus researchers from Hong Kong University use QIAGEN extraction kits and QIAGEN CLC Genomics Workbench to identify SARS-CoV-2 in Malayan pangolins. Their research helps reveal how pangolins may have facilitated the coronavirus transfer to humans, causing the COVID-19 disease. Read their Nature publication here.
Influenza A viruses are transmitted via the air from the nasal respiratory epithelium of ferrets
First author: Mathilde Richard
In honor of Global Hand Hygiene Day, remember to wash your hands! Check out this paper by researchers at Erasmus University Medical Center, who use QIAGEN CLC Genomics Workbench to investigate how influenza and other respiratory viruses are transmitted from nasal tracts using ferrets as a model. Read their full paper in Nature Communications.
Discovery of a subgenotype of human coronavirus NL63 associated with severe lower respiratory tract infection in China, 2018
First author: Yangun Wang
Learn about the critical research by Dr. Y. Wang and team from Guangzhou Medical University who studied a subgenotype of human coronavirus, NL63. They used QIAGEN CLC Genomics Workbench to investigate how this virus undergoes continuous mutation and has the potential to cause severe lower respiratory tract infection in humans. Read their research here.
Discovery of bat coronaviruses through surveillance and probe capture-based next-generation sequencing
First author: Bei Li
Dr. B. Li and colleagues from Wuhan Institute of Virology have been observing bats for potential coronavirus outbreaks after the SARS and MERS incidents. With the current pandemic, better surveillance practices are necessary to predict and mitigate the emergence of these viruses in humans. See how the team uses QIAGEN CLC Genomics Workbench and QIAGEN extraction kits in a capture-based NGS approach to overcome cost challenges. Discover their research here.
The splicing factor hnRNP M is a critical regulator of innate immune gene expression in macrophages
First author: Kelsi O. West
Great research from Texas A&M HSC where K. West and colleagues look at how pre-mRNA splicing decisions influence or are affected by macrophage activation. See how they use QIAGEN CLC Genomics and QIAGEN IPA to understand this link to the innate immune response in this Cell reports paper.
Microbiota dysbiosis and its pathophysiological significance in bowel obstruction
First author: Shrilakshmi Hedge
April is IBS awareness month. Check out this intriguing research by S. Hegde and colleagues from UTMB who look at how bowel obstruction may cause changes to the gut microbiota composition. See how the team utilizes a complete Sample to Insight approach using QIAGEN's extraction kits for bacterial DNA and RNA and QIAGEN CLC Microbial Genomics Module to identify bacterial species affected
Encapsulation boosts islet-cell signature in differentiating human induced pluripotent stem cells via integrin signaling
First author: Thomas Aga Legøy
Exciting research from the University of Bergen, where a team uses every part of the QIAGEN RNA-seq solution from Sample to Insight. See how QIAGEN CLC Genomics Workbench, QIAGEN IPA and other QIAGEN products help the team understand the development process of human-induced pluripotent stem cells into pancreatic islet cells. You can access the full Scientific Reports paper here.
Genetic aberrations in iPSCs are introduced by a transient G1/S cell cycle checkpoint deficiency
First author: Ryoko Araki
Crucial research for cell replacement therapy by Dr. R. Araki and colleagues from the National Institute of Radiological Sciences (NIRS) in Japan where they study how point mutations in reprogrammed pluripotent stem cells prevent their therapeutic application. Learn how the team uses QIAGEN CLC Genomics Workbench to understand how a cell cycle checkpoint deficiency causes a cancer-like state in these cells. Read the full Nature Sciences article here.
Applied shotgun metagenomics approach for the genetic characterization of dengue viruses
First author: Erley Lizarazo
Dengue virus (DENV) is the fastest pandemic-prone arthropod-borne virus, and is detected through virus serology, isolation of the virus or molecular identification. In this Science Direct paper, an international team of researchers optimized DENV detection using shotgun metagenomics. CLC Genomics Workbench was used to identify, genotype and characterize DENV in tested samples, including SNV calling. Importantly, researchers were able to identify multiple DENV serotypes in the same sample using CLC Genomics Workbench and have defined shotgun metagenomics as a suitable technique for detection and typing of DENV.
FDA-ARGOS is a database with public quality-controlled reference genomes
First author: Heike Sichtig
For correct microbial detection and identification by NGS, quality-controlled and tested databases are fundamental. In a Nature Communications paper, researchers from multiple US government labs and organizations, including NCBI, present the FDA-ARGOS quality-controlled reference genomes as a public database and demonstrate its utility in two example cases. In the first case, CLC Genomics Workbench was used to analyze sequencing reads. For metagenomic analysis, paired-end reads were trimmed and scored on the Phred scale, and trimmed reads were mapped to the Enterococcus avium assembly and Homo sapiens assembly using CLC genomics workbench. The researchers showed an accurate microbial identification of E. avium from metagenomic samples with the FDA-ARGOS reference genomes compared to non-curated GenBank genomes. For Ebola virus molecular inversion probes (MIPS), there was 100% concordance between the gold standard real-time PCR comparator and the in silico target sequence comparison, supporting the feasibility of this strategy for use in NGS-based assay evaluation studies.
A comparison of three different bioinformatics analyses of the 16S–23S rRNA encoding region for bacterial identification
First author: Nilay Peker
To optimize the development of antimicrobial therapy, rapid and reliable identification of pathogens from samples are required. Although Sanger sequencing of the 16S ribosomal RNA (rRNA) gene is used, species identification and discrimination are not always possible due to high sequence homology of the 16S rRNA gene among species. Recently, next-generation sequencing (NGS) of the 16S-23S rRNA encoding region has been proposed as a means for reliable identification of pathogens from samples. However, data analysis is time-consuming, and a database for the complete 16S-23S rRNA encoding regions is not available.
In this study, researchers from the University of Groningen in the Netherlands compared speed and accuracy of different data analysis approaches for 16S-23S rRNA NGS data: de novo assembly followed by BLAST, operational taxonomic unit (OTU) clustering or mapping, using an in-house developed 16S-23S rRNA encoding region database for identification of bacterial species. CLC Genomics Workbench was used for de novo assembly, mapping, and OTU clustering using the CLC Microbial Genomics Module. Furthermore, the researchers’ in-house developed 16S-23S rRNA database was uploaded to CLC Genomics Workbench. The researchers concluded that de novo assembly and BLAST appear to be the optimal approaches for data analysis, with the fastest turnaround time and highest sensitivity for sequencing the 16S-23S rRNA gene.
Role of oxidative stress in Retinitis pigmentosa: new involved pathways by an RNA-Seq analysis
First author: Luigi Donato
Retinitis pigmentosa (RP) is an inherited ocular disease characterized by progressive retinal disruption. One of the leading causes of RP is oxidative stress which arrests the metabolic support of photoreceptors. In this study, a group of researchers from Italy investigated the role of oxidative stress in RP onset and progression by whole transcriptome analysis of human retinal pigment epithelium cells, untreated or treated with 100 µg/ml oxLDL to induce oxidative stress. CLC Genomics Workbench was used for data analysis, including trimming of low-quality reads and quantification of gene expression. As a result, the researchers discovered 29 candidate genes associated with RP.
Request your no-obligation trial of QIAGEN CLC Genomics Workbench today!
Check out these recent articles citing Biomedical Genomics Workbench, a comprehensive, highly accurate NGS data analysis platform, providing researchers with a user-friendly, customizable human hereditary disease and cancer analysis solution for biomarker discovery and validation. Below are a few examples of how researchers from Pennsylvania to Japan are using Biomedical Genomics Workbench to accelerate their research.
Relaxin Reverses Inflammatory and Immune Signals in Aged Hearts
First author: Brian Martin
A team based out of the University of Pennsylvania studied the cardiovascular benefits of relaxin—a pregnancy hormone—on both young and old rats to determine its effects on the heart’s aging process. They extracted RNA and analyzed genomic changes, importing raw transcript data into Biomedical Genomics Workbench and mapping reads to the rat reference genome. The study, which ran in PLOS ONE, concluded that relaxin both alters gene transcription and suppresses inflammatory pathways and genes associated with heart failure and aging. This has therapeutic potential for cardiovascular and inflammation-related diseases, such as heart failure, diabetes and atrial fibrillation.
Comparison of Genetic Profiling of Primary Central Nervous System (CNS) Lymphoma Before and After Extra-CNS Relapse
First author: Kosuke Toyoda
In 2017, a team of Japanese scientists studied the mechanism of chemotherapy resistance in lymphomas of the CNS (central nervous system), which were previously identified as promising targets for immune checkpoint blockade therapy. They performed comprehensive genomic analysis in the hope of better understanding tumor oncogenic evolution and overcoming the immune privilege. The team compared the impact of extra-CNS relapse, using Biomedical Genomics Workbench to call variants. Their report, which ran in Blood Journal, suggested that the evolution of mutations enabled systemic disease progression with a breakthrough of immune privilege, characterized by immunological overpowering and the dysregulation of B-cell proliferation signaling.
Assessing the GeneRead SNP for Analysis of Low-Template and PCR-Inhibitory Samples
First author: Maja Sidstedt
When forensic DNA laboratories use massive parallel sequencing for human identification purposes, chances are good that the DNA samples are heterogeneous and of varying quality. SNP assays must therefore be able to handle impurities and low amounts of DNA. Using Biomedical Genomics Workbench to analyze sequencing data, a Swedish team evaluated the GeneRead Individual Identity SNP panel, which handled multiple extraction methods and withstood inhibitor solutions and was concluded to be satisfactory for casework-like samples. Read about the study, which ran in PLOS ONE in January this year.
To request your no-obligation trial of Biomedical Genomics Workbench, just click here.
We are excited to launch the QIAseq DNA V3 Panel Analysis plug-in for Biomedical Genomics Workbench and Biomedical Genomics Server Solution. The plug-in analyzes and visualizes data from the new QIAseq Targeted DNA Panels — as well as custom DNA panels designed via the Custom Panel Design Service. When combined with Biomedical Genomics Workbench, the QIAseq Targeted DNA Panels enable ‘Digital NGS’ with high accuracy for detecting low frequency variants.
‘Digital NGS’ offers a unique approach, which incorporates unique molecular indices (UMIs) into the starting DNA material before any amplification takes place. This process eliminates errors due to PCR duplicates, which can lead to false positives, false negatives, and an altered allelic fraction/allele frequency of detected variants. By labeling each biomolecule with a UMI, the software is able to filter out PCR artifacts, which increases overall sensitivity and specificity in detecting low frequency variants. In addition, ligation artifacts are automatically removed.
The new QIAseq DNA V3 Panel Analysis plug-in provides a complete, ready-to-use workflow with all necessary analysis tools and many optimized, locked down parameter settings for analyzing Illumina data — making it simple to analyze your UMI-based panel data with Biomedical Genomics Workbench, with no expert bioinformatics expertise needed.
We're happy to announce that new releases of our products are now available. The releases offer a number of new features and improvements. You can see a few of the highlights below and visit the individual product pages to view the detailed release notes.
Determine which isoforms have interesting biological properties or enhance your multi-omics research approaches - here are the highlights of the latest IPA release:
See the more detailed release notes:
IPA Fall Release 2016
With our fall release of Ingenuity Variant Analysis comes a number of improvements. The headlines are:
Get more details:
Ingenuity Variant Analysis Fall Release 2016
Take a look at these highlights of features and benefits you get from the QIAGEN Clinical Insight (QCI) Interpret September 2016 release:
See more feature improvements and details on the benefits:
QCI Interpret September 2016 Release
It's a pleasure to present the new releases of both workbenches and servers in our CLC product line. Here are a few highlights:
Read more about these and other new features and improvements:
Biomedical Genomics Workbench 3.5
Biomedical Genomics Server Solution 8.5
CLC Genomics Workbench 9.5
CLC Genomics Server 8.5
We recently returned from beautiful Barcelona, where we attended the 49th annual meeting for the European Society of Human Genetics focusing on the latest advances being made in hereditary and rare diseases. It was a wonderful chance to meet our customers and our booth was bustling all day with meetings and demonstrations of our advanced testing and QCI solutions.
To start things off at the conference, we issued a press release announcing our implementation of the Broad Institute’s GATK best practices pipeline for Biomedical Genomics Workbench with its Biomedical Genomics Server Solutions. The press release also shared information about our highly accurate clinical performance at the recent CAGI 4 challenge for our Hereditary Disease Solution for exomes, genomes, and large gene panels.
At ESHG, we also hosted a satellite meeting and three poster sessions. We met an overwhelming interest in our presentations and the topic about "Using NGS solutions to compare exomes in rare and inherited diseases and identifying the cause of the disease" filled the room - all seats and standing spots were taken. As a respond to the huge interest, we had the presentation recorded. You can watch both the video and the posters below.
We were impressed by the caliber of research and innovation being undertaken by our colleagues and customers at ESHG. In 2017, the organization will hold its 50th anniversary event in Copenhagen - we hope to see you there!
Watch the presentation from our satellite meeting
A great presentation on the use of next-generation sequencing in clinical applications was given by:
View the posters
Identification of potential immune targets in controlling Endometrioid Endometrial Carcinoma metastatic progression
Presented by Elodie Dubus
Leveraging network analytics to infer patient syndrome and identify causal mutations using patient DNA sequence and phenotype data
Presented by Sohela Shah
A efficient and accurate end-to-end next-generation sequencing solution for identifying and interpreting disease causing variants in rare diseases
Presented by Anika Joecker
Liquid biopsy solutions
Our liquid biopsy solutions empower you to sensitively, specifically and rapidly analyze circulating nucleic acids, giving you the first step towards uncovering valuable biomarkers in your samples. Check out our solutions on qiagen.com or visit the Biomarker Insights blog for scientific stories!
Inspiring talks at ACMG
We recently attended the annual meeting of the American College of Medical Genetics and Genomics in Tampa, Fla., where we enjoyed meeting and speaking with new people at our booth. One of our executives, Dr. Dan Richards, VP of Informatics, gave a well-attended presentation entitled “Genome-scale ACMG Pathogenicity Predictions Using Comprehensively-Curated Clinical Genetics Disease Models.” We also attended two similarly compelling talks at the event, which resulted in GenomeWeb coverage that resonated strongly with us.
The first GenomeWeb report focused on a lecture by Stanford University genetic counselor Mitchel Pariani, whose talk was entitled “Lessons Learned from a Re-review of FBN1 Variants Utilizing New Tools in Variant Review.” Pariani discussed the gap in classifications and recommendations from clinical centers and testing laboratories when they conduct predictive testing on a variant in a disease-related gene. Given that this gap could have a significant impact on treatment, Pariani’s team tested the consistency of variant interpretation classification to the well-understood FBN1 gene, which resulted in discordant variant classifications. This led him to stress the importance of ongoing variant classification review for genetics counselors and to point out the need for strong communications between testing and clinical labs to maintain the most relevant, up-to-date information on variants that may have been reclassified.
We couldn’t agree more with Pariani’s assertions. We built the QIAGEN Clinical Insight (QCI™) Interpret solution to closely follow ACMG guidelines, enabling clinical geneticists to feel confident in their interpretations. We also work to ensure that gaps like the one described by Pariani are increasingly rare by continuously updating our QIAGEN Knowledge Base of manually curated publications. This gives our users the strongest possible foundation for building their analyses and interpretations of clinically relevant variants.
GenomeWeb also reported on an ACMG presentation by Baylor and Johns Hopkins researchers who reported that the diagnostic yield rate for clinical exome sequencing studies of hereditary disease reached only 25%. To improve this rate, one of the presenters suggested reanalyzing variants with better bioinformatics solutions, and using matchmaking tools to find similar patient cases that might establish a causative candidate variant. ACMG recommends that researchers retain raw genomic data and variant files — especially since new disease genes continue to be discovered at a rapid pace.
Improve the case solve rate
In support of solving more of these cases, we offers an Advanced Testing Solution for NGS applications. Biomedical Genomics Workbench and Biomedical Genomics Server Solution enable variant identification and filtering, QC reporting, and result validation/visualization, enabling variant discovery across all samples with a low false positive rate. Ingenuity Variant Analysis combines analytical tools and integrated content to rapidly identify and prioritize variants from human sequencing data. It offers variant interpretation, filtering, and prioritization to generate answers for more cases where routine testing failed. Here’s a little benchmarking data that illustrates how our solution can improve the case solve rate.
It was great to hear these speakers touching on many of the points we advocate on a daily basis. This is an exciting time for genetics and genomics, and we are proud to provide comprehensive solutions that have an impact on how progressive healthcare decisions can be informed and made.
Learn more about QCI Interpret and the Advanced Testing Solution.
Living with a rare disease is often lonely and isolating for patients and caregivers alike. Through our work with researchers and medical teams, we’re acutely aware of the difficulties experienced by the rare disease community, which range from a lack of resources and research to the impact of the diseases themselves. With Rare Disease Day 2016 we want to salute those who work and live with disease and to shine a spotlight on this area of medical research, which is all too often overlooked.
$1,000 discount
Most rare diseases have a genetic cause, and we’re proud that our tools are helping scientists contribute to efforts to unravel these challenging diseases. In fact, we’ve bundled a few of our most powerful tools into the QIAGEN Bioinformatics Clinical Research Solution for NGS DNA applications, created for researchers to discover more insights and get publication-ready results faster — and in honor of Rare Disease Day, we’ve reduced the price by $1,000. The solution includes:
To learn more and get the discount, please email us.
Customer stories
There are so many remarkable new stories about finding answers to rare disease, and in the past year it’s been an honor for us to share some of them. In case you missed them, here’s a quick glimpse of just a few of the amazing discoveries made by our customers in the rare disease field:
We’re proud to support these scientists and so many others around the world who are making a real difference in the lives of people coping with rare disease.
We're committed to enabling our customers to analyze vast amounts of NGS data quickly and at the lowest total cost possible. This year, we made investments designed to enable scalable discovery through the optimization of the speed, accuracy, and cost of our server solution consisting of CLC Genomics Server with the Biomedical Genomics Server extension and Biomedical Genomics Workbench platform. Through extensive benchmark testing, we were able to show that our solution is able to process the maximum throughput from an Illumina HiSeq X Ten, with high accuracy, and at a total cost of ownership (TCO) much lower than alternative solutions.
Data analysis to keep pace with maximum throughput
The maximum throughput of an Illumina HiSeq X Ten has been established at a total of 18,000 whole genome sequences per year. This equates to an average rate of analysis of one whole human genome sequence every 30 minutes. By testing the optimized speed of our solution (including SSE/SIMD code optimizations for Intel x86), we were able to demonstrate that CLC Genomics Server is not only able to keep pace with the data output of an Illumina HiSeq X Ten sequencer running at maximum throughput, but able to do so with less computing nodes than recommended by others. Testing revealed that CLC Genomics Server requires a computer cluster of only 35 nodes, as contrasted to the 85 nodes recommended by Illumina (variant calling based on BWA+GATK in the HiSeq X System Lab Setup and Site Prep Guide (Part #15050093 Rev. H July 2015)). Our comparison benchmark testing was carried out by installing the CLC Genomics Server software on a compute cluster of 35 nodes, each equipped with a 28-core E5-2697 v3 @ 2.60GHz, 128 GB RAM on a shared lustre file system. We used the standard CLC variant calling workflow that comes with the Biomedical Genomics Server solution.
Full analysis of whole human genomes for as little as $22 each
By minimizing the hardware requirements from 85 nodes to just 35, we also minimize the total cost of ownership (TCO) of the solution over a four-year period, which includes everything from software licenses and hardware, to power, cooling, networking, and floor space. Our calculations of the total ownership costs show that with the given specifications, the cost will be as low as $22 per whole human genome analyzed. Given the high throughput enabled by a HiSeq X Ten, the savings can be sizable.
Accurate identification of disease-causing variants
Of course, the total cost of ownership and speed of the overall solution doesn’t mean much unless the results of the analysis are also accurate. To prove accuracy, we chose hereditary disease trio analysis as a test case, and are proud to say that in most cases the Biomedical Genomics Server solution (CLC Genomics Server and Biomedical Genomics Workbench) together with Ingenuity® Variant Analysis™ for interpretation accurately identified the disease-causing variant without calling any false-positive de novo or causal variants.
But this is not the end of the story; we’re just getting started. Our focus on application performance and accuracy of results is essential, so we expect to improve these even more in the future.
Learn more about Biomedical Genomics Server solution
Read the story on the Intel Health & Life Sciences blog
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).
