New Database of Ethnically and Phenotypically Diverse Whole Genome Information
Product News Jun 09, 2015
QIAGEN will serve as the exclusive distributor of the database, which is accessible via the company’s secure and integrated Ingenuity® Variant Analysis and CLC Biomedical Genomics Workbench platforms.
The Inova Genomes dataset was built by ITMI from a collection of more than 7,000 whole genomes derived from over 2,800 families who consented to make this information available to support advances in disease research. Unlike NIH-funded genomic studies, which must make their data publicly available, privately funded studies like those of ITMI do not have this requirement. However, ITMI feels that it has an ethical duty to contribute to collaborative efforts by diverse groups working to better understand human health, and that QIAGEN can offer a unique opportunity to achieve this while stringently protecting participant confidentiality. Using their own bioinformatics tools or QIAGEN’s proprietary bioinformatics tools, researchers can easily and interactively mine these data directly for hypothesis generation and validation, including in combination with their own data for improved resolution of diagnostic odyssey cases and the reduction of false-positive rates.
“We are honored to collaborate with ITMI to make this new big data offering available for the benefit of therapeutic discovery and patient care around the world,” said Douglas Bassett, Ph.D., Chief Science and Technology Officer for QIAGEN’s Bioinformatics Business Area. “Inova Genomes is the latest addition to QIAGEN’s industry leading portfolio of databases that includes Ingenuity Knowledge Base, HGMD and the Allele Frequency Community. Paired with our integrated bioinformatics solutions, these expertly curated content resources can be mined and queried through QIAGEN’s interpretation solutions. These comprehensive, easy-to-use solutions are helping advance disease research and drive the adoption of next generation sequencing in clinical settings.”
“ITMI developed this one-of-a-kind dataset to help our clinicians and clinical researchers better understand genetic disease and optimize patient care. By enabling more researchers to access this previously unavailable resource, we believe they can develop a better understanding of familial and ancestral components of disease and have an even greater impact on improving human health and advancing precision medicine,” said John Niederhuber, M.D., Chief Executive Officer at ITMI. “ITMI is pleased to be working with QIAGEN to provide the clinical research community access to this new solution which can help them jump start a cohort analysis with immediate access to richly annotated data or serve as a control library to improve case solve rates and reduce false positives.”
“We are very proud of the accomplishments of the Inova Translational Medicine Institute and our position as a leader in the application of genomes to patient care. We are excited to share these accomplishments with researchers around the world to provide even greater opportunities to advance our understanding of diseases,” said Mark Stauder, President and Chief Operating Officer of Inova Health Systems.
"In precision medicine, your ability to make impactful decisions and discoveries from each new dataset rests heavily on analyzing the data in the richest context possible – how much information you have about other genomes, the health outcomes associated with those genomes and what’s known from peer-reviewed published research,” said Eric Schadt, Ph.D., Director of the Icahn Institute for Genomics and Multiscale Biology. “An ethnically diverse genome database like the Inova Genome database when paired with big data computation and expertly curated content resources such as the QIAGEN Ingenuity Knowledge Base, can dramatically advance disease research and drive the adoption of next generation sequencing in the clinical setting."
The Inova Genomes data was generated using next-generation sequencing and has been annotated with electronic health record information that includes: bifurcation of normal vs. disease patients with high-level diagnosis, detailed race, ethnicity/ancestry and demographics (e.g. age, gender), and genotype, haplotype, longitudinal data and pedigree information, among others. The therapeutic areas represented by organ system include: pulmonary, gastrointestinal, genitourinary, cardiac, hematological, musculoskeletal and connective, endocrine and immunity, neoplasms, neurological disorders, microbial infection, dermatological and ophthalmological. Expression by RNA-seq, miRNA and methylation data are also available for a subset of individuals as is the ability to pursue additional collaborations.
Inova Genomes is available as a standard and premium offering. A standard subscription provides access to VCF data annotated with detailed clinical information from de-identified electronic health records, accessible only via Ingenuity Variant Analysis and CLC Biomedical Genomics Workbench. Premium subscriptions include access to the full VCF, survey information on nutrition, environment, family history, stress and electronic health record data, BAM files, miRNA, RNA-seq and methylation data, and eligibility for access to biobanked samples and patient re-contact rights for trial recruitment.