QIAGEN and Inova Translational Medicine Institute (ITMI) today announced the commercial launch of Inova Genomes, a unique compendium of ethnically, phenotypically, and ancestrally diverse whole-genome sequencing data for researchers seeking to accelerate cohort analysis programs or improve success rates in diagnostic odyssey cases.
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.
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.