QIAGEN launches novel NGS panel for rare and inherited diseases with advanced bioinformatics for complete Sample to Insight solution
Jun 14 2019

QIAGEN launches novel NGS panel for rare and inherited diseases with advanced bioinformatics for complete Sample to Insight solution

QIAseq Expanded Carrier Screening Panel and industry-leading software identify genetic variants responsible for more than 200 disease indications

Hilden, Germany, and Germantown, Maryland, June 14, 2019 – QIAGEN today announced the launch of a novel Sample to Insight solution for translational and clinical research into genetic drivers of rare and inherited diseases. The new QIAseq Expanded Carrier Screening Panel provides identification of targets, genes and other regions of interest responsible for more than 200 disease indications. Running on any leading next-generation sequencing (NGS) platform, the QIAseq panel is integrated with QIAGEN’s comprehensive CLC Genomics Workbench and QIAGEN Clinical Insight (QCI)-Interpret for QIAseq to provide evidence-based, actionable insights.

“Inherited disorders affect millions of people globally, often at a very early age, with debilitating or fatal effects. There is an urgent need for better understanding of the diseases, their causes and prevalence, and QIAGEN is addressing this need with an important Sample to Insight workflow for precision analysis,” said Jonathan Sheldon, Senior Vice President of QIAGEN’s Bioinformatics Business Area. “Our three-part solution – integrating detection by the QIAseq panel, analysis with CLC Genomics Workbench and variant interpretation through QCI-Interpret for QIAseq – is a sophisticated yet easy-to-use platform for much-needed research. This solution reduces sequencing requirements, cuts hands-on time and delivers insights more simply and quickly. Ultimately, these research efforts can lead to more rapid medical interventions for some of these diseases and a better quality of life for patients and their families.”

The new QIAseq Expanded Carrier Screening Panel leverages QIAseq’s Single Primer Extension (SPE) technology with unique molecular indices (UMIs) to enable the analytically sensitive identification of all types of variants, including complex ones, critical to the study of inherited disorders. The QIAseq workflow delivers uniform coverage across all targeted regions, regardless of GC content with an easy, automation-compatible workflow. The assay reduces hands-on, turnaround times, and primer dropout rates compared to other enrichment technologies, ultimately decreasing the overall cost.

QIAGEN bioinformatics solve the challenge of getting from sequencing to actionable insights without the need to build a complex bioinformatics framework or team. Earlier this year, QIAGEN introduced new assay-and-software bundles in oncology research, offering cutting-edge bioinformatics with preconfigured QIAseq DNA panels and custom panels to support cancer research. The QIAseq Expanded Carrier Screening solution extends this Sample to Insight NGS approach into the study of rare and inherited diseases.

CLC Genomics Workbench offers the ease of detecting complex variants, in addition to SNVs and InDels, typically encountered in inherited disease studies. QCI-Interpret for QIAseq, part of the QIAGEN Clinical Insight (QCI) family of software, translates variant information into reports that provide evidence-based insights. The software is powered by the QIAGEN Knowledge Base, the industry’s largest, weekly updated collection of structured curated data. An expert team of MDs and PhDs has read virtually all scientific articles on all the conditions covered by the QIAseq Expanded Carrier Screening Panel pulling together exhaustive knowledge to enable an accurate and up-to-date understanding of variant pathogenicity and bring research insights closer to the bedside.

QIAGEN will showcase its Sample to Insight solutions including the new Expanded Carrier Screening solution at the European Human Genetics Conference 2019 (ESHG) from June 15-18, 2019, in Gothenburg, Sweden. QIAGEN will exhibit at Stand No. 546 in the Exhibition Hall and will present a satellite meeting on its Sample to Insight solutions from 11:45 to 12:45 hours Sunday June 16 in Room A-3.

For more information about QIAGEN’s Bioinformatics portfolio, please visit www.qiagenbioinformatics.com


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 March 31, 2019, QIAGEN employed approximately 5,100 people in over 35 locations worldwide. Further information can be found at www.qiagen.com.


Share this page