Hilden, Germany, and Germantown, Maryland, October 28, 2020 – QIAGEN today announced the launch of QIAseq Human Exome TR Insights, an innovative solution combining high-performance chemistry with robust bioinformatics to enable customers to sequence and analyze multiple types of genomic variation across the entire human exome. This integrated research solution offers rapid preparation of next-generation sequencing (NGS) exome libraries, robust sequence data analysis, and industry-leading variant interpretation capabilities. With higher levels of sequence coverage and a faster workflow, it has major advantages over market-leading products.
The innovative QIAseq Human Exome TR Insights solution consists of three seamlessly integrated components: the QIAseq Human Exome Panel, QIAGEN CLC Genomics Workbench, a comprehensive package for the analysis and visualization of data from all major NGS platforms, and QCI Interpret Translational, a new software solution for the research community that enables rapid, evidence-based variant annotation, filtering and interpretation. This variant interpretation solution is powered by the QIAGEN Knowledge Base, the industry’s largest collection of biological and clinical findings with roughly 2,000,000 unique variants expertly selected from over 300,000 scientific articles, including 140,000 variants connected to the top 200 most prevalent recessive disease genes.
“Our holistic, bundled solution of optimized chemistry plus bioinformatics provides a fuller solution to an expanding, competitive marketplace,” said Dr. Thomas Schweins, Senior Vice President, Life Science Business Area of QIAGEN. “Intended for translational research only, QIAseq Human Exome TR Insights will accelerate the understanding and analysis of rare and undiagnosed genetic diseases in humans, which affect 400 million people worldwide. Half of them are children, and a third do not survive to age 5.”
The QIAseq Human Exome Panel’s highly optimized hybrid-capture chemistry and workflow minimize GC-induced bias and improve capture efficiency and specificity. Balanced coverage across difficult target regions ensures minimal drop-outs and false negatives. It offers higher levels of exome sequence coverage, with an improved fold-80 sequence penalty compared with other products, and a tunable hybridization step of as little as 30 minutes, as compared to several hours with other approaches.
“With the trend in NGS towards more comprehensive assays, the amount of data interpretation and vetting required is growing exponentially. As a result, it is becoming increasingly difficult for researchers to identify causal variants and disease biomarkers both accurately and efficiently,” added Dr. Jonathan Sheldon, Senior Vice President, QIAGEN Digital Insights Business Area. “QCI Interpret Translational prioritizes candidate variants from millions to handfuls within minutes. The software rapidly identifies biologically significant variants by combining powerful analytical tools and unparalleled content from the QIAGEN Knowledge Base, enabling researchers to easily triage variants according to disease context and their specific selection criteria.”
QCI Interpret Translational improves lab efficiency, accuracy, and profitability by automating manual curation processes, dynamically classifying variants according to professional guidelines with complete transparency and full user-control, and by optimizing resource allocation, allowing users to focus on what matters most—transforming genomic data into actionable insights for real-world impact.
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) and Life Sciences (academia, pharma R&D and industrial applications, primarily forensics). As of September 30, 2020, QIAGEN employed more than 5,300 people in over 35 locations worldwide. Further information can be found at http://www.qiagen.com.