REDWOOD CITY, Calif.—QIAGEN Redwood City has begun a collaboration with the Center for Applied Genomics (CAG), which boasts one of the world’s largest whole-exome and whole-genome sequencing laboratories. The collaboration consists of a large-scale next-generation sequencing study to identify the causative variants in rare pediatric diseases. Under the collaboration, QIAGEN’s Ingenuity Variant Analysis, which combines analytical tools and integrated content for the rapid identification and prioritization of variants, will be integrated into CAG’s bioinformatics pipeline.
The Ingenuity Variant Analysis application is HIPAA-compliant and web-based, enabling rapid identification thanks to high-throughput next-generation DNA sequencing technologies. It features both analytical tools and accurate, curated biological content from the Ingenuity Knowledge Base, an extensive manually curated repository of genomic information, scientific literature and public databases.
“The search and biological interpretation of causal variants in NGS data is the critical bottleneck in large scale NGS studies aimed at understanding rare diseases in children,” Hakon Hakonarson, M.D., Ph.D., director of CAG and associate professor at The Children’s Hospital of Philadelphia, said in a press release. “We have integrated Ingenuity Variant Analysis into our bioinformatics pipeline to make the search for the rare events more streamlined and improve our ability to rapidly identify high-impact variants from thousands of rare disease patients.”
CAG aims to translate basic research findings into new medical options, discovering the genetic causes of rare and common childhood diseases, such as autism, diabetes, epilepsy, schizophrenia and pediatric cancer. CAG hopes to identify genetic markers capable of accurately diagnosing patient subsets with genetic abnormalities to enable the selection of the most effective therapies.
“CAG and Dr. Hakonarson are leaders in the effort to understand and treat rare diseases in children, and we are pleased to collaborate with them in this important area of research. It is incredibly important to patients, families and physicians to rapidly unlock the medical mysteries of rare diseases,” commented Doug Bassett, chief scientific officer and technical officer of the QIAGEN Center of Excellence in Biological Analysis and Interpretation. “Ingenuity Variant Analysis greatly accelerates this research effort, speeding the way to rare disease interpretation and the development of future treatment and patient care regimens.”
The collaboration is the second endorsement of Ingenuity Variant Analysis this week, as QIAGEN announced on Oct. 22 that the Mount Sinai Genetic Testing Laboratory and the Icahn Institute for Genomics and Multiscale Biology have adopted the technology solution for research and translational genomics applications related to the characterization and identification of rare diseases. The application will also stand as the genome interpretation platform for training at the Icahn School of Medicine at Mount Sinai.
“In our efforts to provide answers to families who may have spent years on a frustrating and painful diagnostic odyssey, this ability to dramatically accelerate the process of getting to a medically relevant insight is invaluable,” said Eric Schadt, Ph.D., director of the Icahn Institute for Genomics and Multiscale Biology, chair of the Department of Genetics and Genomics Sciences, and the Jean C. and James W. Crystal Professor of Genomics at the Icahn School of Medicine at Mount Sinai. “Our mission is to bring to bear as much information as possible to help each patient. The combination of Ingenuity Variant Analysis and the Ingenuity Knowledge Base is an essential part of achieving that goal.”
SOURCE: QIAGEN press source
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