REDWOOD CITY, Calif.—The press release announcing formation of the Empowered Genome Community, states that it is “a first-of-its-kind initiative to help people who have had their genomes sequenced share, explore and interpret their data with researchers and each other.” To highlight how the community can spark new biomedical insight, QIAGEN N.V. also released an open collaborative analysis of myopia in 111 people whose genomes were sequenced through Harvard’s Personal Genome Project (PGP), which is a public repository of well-phenotyped human genomes. Anyone from the so-called “citizen scientist” to full-time researcher can directly review and help refine the analysis via QIAGEN’s Ingenuity Variant Analysis with the goal of jointly publishing robust insights on myopia next year.
“Comparing well-annotated PGP genomes through a collaborative platform such as variant analysis to understand important phenotypes like eyesight, helps realize a key piece of the PGP's original vision,” said George Church, professor of genetics at Harvard Medical School and founder of the PGP. “Science needs more of us to share our genomic, environmental and trait data, and even our cells; and then to work together to interpret those data and pioneer new ways to do so.”
Ingenuity Variant Analysis is a HIPAA-compliant cloud-based solution to help researchers compare and functionally interpret human genomes to better understand diseases and other phenotypes. The core of this interpretation resource is the Ingenuity Knowledge Base, an expert-curated knowledge resource for next generation biology. It came to QIAGEN with their acquisition of Ingenuity Systems, based in Redwood City, Calif. As the company’s Center of Excellence in Biological Analysis and Interpretation, QIAGEN Redwood City provides biomedical information and analysis solutions for the exploration, interpretation and analysis of complex biological systems in life science research and molecular diagnostics. Marketed under the Ingenuity brand, the technology is used by researchers and clinicians at pharmaceutical, biotechnology, academic, diagnostic and clinical institutions worldwide.
QIAGEN scientists used Variant Analysis to compare the whole genomes of 111 PGP participants who were surveyed for eye diseases. Initial findings identified 46 genes enriched with rare, potentially functionally relevant variants in people with myopia, but not in those without the condition. Further filtering in Variant Analysis using functional insight from the Ingenuity Knowledge Base showed that 17 of these genes are implicated in eye phenotypes in people or mice, or directly interact with such genes. To further refine findings, QIAGEN now invites open collaboration through January 2014, leveraging crowd expertise on myopia physiology, epidemiology, and filtering strategies, with substantive contributions recognized by joint authorship on any resulting publication.
“To make every genome deeply informative in the future, we must first compare many of our genomes today to spot patterns that help explain health,” said Nathan Pearson, principal genome scientist at QIAGEN. “The Empowered Genome Community adds a key piece to public sequencing efforts like the PGP: a way for citizen scientists to explore their data, together with full-time researchers, to spark new insights for common good.”
QIAGEN invites anyone who has had her or his whole genome sequenced through PGP or other programs such as the Understand Your Genome program to join the Empowered Genome Community. Participants will retain full ownership and control of their private data, and can explore their genomes and, as desired, usefully share them with each other and with full-time researchers in their own Variant Analysis accounts. The idea, as QIAGEN and Harvard suggest, is that by pooling their data and actively working with interested full-time researchers, members can make their genomes directly useful as controls or cases in future studies of diseases and other phenotypes.
QIAGEN, a Netherlands holding company, is a global provider of sample and assay technologies that are used to transform biological materials into valuable molecular information. Sample technologies are used to isolate and process DNA, RNA and proteins from biological samples such as blood or tissue. Assay technologies are then used to make these isolated biomolecules visible and ready for interpretation. The company markets more than 500 products worldwide. Currently, QIAGEN employs approximately 4,050 people in more than 35 locations.
