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.
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