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QIAGEN Launches Empowered Genome Community, Invites Citizen Scientists and Researchers to Pool and Collaboratively Interpret Human Genomes
- Empowered Genome Community unites people who have had their genomes sequenced to help make their data scientifically useful through sharing and collaborative interpretation
- Effort links citizen scientists with full-time researchers to pool and interpret genomes via QIAGEN's secure online interpretation platform, Ingenuity® Variant Analysis(TM)
- Patients and healthcare providers benefit from reliable FDA-approved companion diagnostic to guide the use of new therapy targeting patients with EGFR gene mutations
- Highlighting promise of the approach, QIAGEN releases an open, collaborative analysis of myopia in Harvard Personal Genome Project data, and invites citizen scientists to help refine and jointly publish findings
QIAGEN N.V. (NASDAQ: QGEN; Frankfurt Prime Standard: QIA) today announced the Empowered Genome Community, which 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 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 - citizen scientist or full-time researcher alike - can directly review and help refine the analysis via QIAGEN's Ingenuity® Variant Analysis(TM) (https://variants.ingenuity.com/community-myopia) 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 powerful, 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, the leading expert-curated knowledge resource for next generation biology.
For example, in the preliminary analysis, 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 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 31 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 (UYG) program to join the Empowered Genome Community (http://www.ingenuity.com/products/variant-analysis/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. 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.
The Empowered Genome Community and the preliminary myopia analysis will be discussed at the American Society of Human Genetics annual meeting in Boston during Session 20 at 9:15 a.m. on October 24th. To join the community with your own genome, or to help refine and publish findings on myopia, please visit: http://www.ingenuity.com/products/variant-analysis/genome-community.
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