QIAGEN Launches New Bioinformatics Solution for Hereditary Diseases

QIAGEN N.V. 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:

• “Genome-scale ACMG pathogenicity classification using comprehensive curated clinical evidence and data,” a presentation by Dan Richards, Ph.D., Vice President of Biomedical Informatics, QIAGEN Bioinformatics.

October 7, 1:00 p.m. – 2:30 p.m., Loch Raven room, 2nd floor, Sheraton Inner Harbor Hotel:

• “Solving Diagnostic Odysseys in the Neonatal Intensive Care Unit Achieving Valuable Insight from a Single Cell Genome,” a presentation by Benjamin Solomon, MD, Chief, Division of Medical Genomics, Inova Translational Medicine Institute.
• “NGS Diagnostic Odyssey: From Bench to Bedside,” a presentation by Yuval Itan, Ph.D., of The Rockefeller University. This will be an educational overview of how bioinformatics solutions transform NGS results into actionable hereditary disease insights.

October 8, 1:00 p.m. – 2:30 p.m., Baltimore Convention Center:

• “Accurate identification and interpretation of variants from Single Cell NGS data using QIAGEN Bioinformatics products”, a presentation by Dr. Anika Joecker, Global Product Manager, QIAGEN Bioinformatics.

October 8, 11:00 a.m. – 1:00 p.m., three poster presentations:

• “An automatic end-to-end solution for disease-causing variant detection in rare and hereditary diseases with a high case solve rate and a much reduced false positive rate,” Anika Joecker, Ph.D., 12:00 pm – 1:00 pm in 1610T, Exhibit Hall, Level 1.
• “Genomic Crowdsourcing: Allele Frequency Community Provides Expansive, Ethnically Diverse, Freely Available Community Resource for Allele Frequency Annotation,” Dan Richards, Ph.D., 12:00 p.m.-1:00 p.m., in 1592T, Exhibit Hall, Level 1.
• “Ingenuity Variant Analysis, Leveraging the Knowledge Base and HGMD®, achieves over 30x enrichment in biologically relevant variants from whole genome and exome sequence data from patients with rare disease,” Sohela Shah, Ph.D., 11:00 a.m. – 12:00 p.m. in 1913T, Exhibit Hall, Level 1.

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. Find out more about the QIAGEN hereditary disease solution or request a demonstration or a trial of these products here.