QIAGEN Bioinformatics continues to set the standard with Hereditary Disease Solution
May 19 2016

QIAGEN Bioinformatics continues to set the standard with Hereditary Disease Solution

Expanded offering provides highly accurate clinical sequence data interpretation

Barcelona, Spain, May 19, 2016 QIAGEN today announced two milestones in its delivery of solutions for clinical analysis and interpretation of hereditary diseases with whole exome and genome data.

Beginning this month, pipeline scripts that implement the Broad Institute’s GATK best practices — the gold-standard for variant calling — can be easily used in QIAGEN’s Biomedical Genomics Workbench with its Biomedical Genomics Server Solutions. This combination forms part of QIAGEN’s Hereditary Disease Solution. In addition, the variant-interpretation capabilities of QIAGEN’s Hereditary Disease Solution were assessed at the recent Critical Assessment of Genome Interpretation (CAGI) 4 event for clinical accuracy using the clinical panel in the Johns Hopkins Challenge. The Company will be showcasing these advances and its extensive portfolio of software solutions at the European Human Genetics Conference in Barcelona, May 21-24.

Widely enabling GATK best practices without technical or bioinformatics skills

QIAGEN’s plugin for GATK incorporation and pipeline scripts expand access to the GATK best practices for exomes and whole genome variant analysis for single samples within its Biomedical Genomics Workbench. Requiring no advanced bioinformatics skills, this configuration allows clinical researchers and clinicians to:

  • Run GATK according to the best practices recommended by the Broad Institute for whole exome sequencing or whole genome sequencing in combination with Ingenuity Variant Analysis as an end-to end variant calling and interpretation workflow from the workbench;
  • Combine GATK results with variants called using CLC variant-calling pipelines to identify variants missed previously; and
  • Visualize and validate results without importing VCF and BAM files within a single product.

“The Broad’s GATK pipeline is a community standard, and is cited in more than 90 percent of papers,” said Michael Barmada, Associate Professor Human Genetics, Director at the Center for Computational Genetics, University of Pittsburgh. “I am very excited that GATK is now integrated into the Biomedical Genomics Workbench, making it as easily accessible as the other tools provided by QIAGEN. This signifies an expanding commitment to clinical researchers and clinicians who want to quickly and comprehensively call variants and create interpretation workflows with community-standard tools in an easy-to-use environment.”

QIAGEN Bioinformatics’ Hereditary Disease Solution performs best in clinical accuracy at this year’s CAGI 4 challenge

The QIAGEN Bioinformatics Hereditary Disease Solution for exomes, genomes, and large gene panels performed best in clinical accuracy at the CAGI 4 conference for the second consecutive year. For the challenge, each participant was provided variant calls for 83 genes from a cohort of 106 patients with a range of clinical presentations and tested for assignment of patients to their correct disease class. Dr. Sohela Shah, Principal Genome Scientist for Advanced Clinical Testing at QIAGEN Bioinformatics, demonstrated the variant interpretation capabilities of QIAGEN’s Hereditary Disease Solution and its extensibility for whole exome and genome analysis.

“We are excited to have participated in this study and to demonstrate our superior capabilities for variant interpretation,” said Dr. Michael Hadjisavas, VP of Clinical Genomics Program, QIAGEN Bioinformatics. “Our capabilities and investments in developing these solutions will become increasingly relevant as the research and clinical community scales from panels to exomes and ultimately to whole genomes for personalized medicine. This trend will continue to demand the use of our highly sophisticated computational solutions with the perpetually curated QIAGEN Knowledge Base to predict phenotypic impacts of genomic variation. CAGI 4 was an ideal showcase for these capabilities within our Hereditary Disease Solution.”

QIAGEN Bioinformatics’ ESHG 2016 activities
In addition to these recent industry milestones, QIAGEN Bioinformatics will have a sustained presence at ESHG, with a booth (#550/552) and a number of featured speakers at our satellite meeting. For details about our presence at ESHG, please see our recent blog post.


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 March 31, 2016, QIAGEN employed approximately 4,600 people in over 35 locations worldwide. Further information can be found at http://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). 


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