Qiagen launches Empowered Genome Community

Qiagen has launched the Empowered Genome Community - an initiative to help people who have had their genomes sequenced share, explore and interpret their data with researchers and each other. The project is said to be the first of its kind.

Qiagen has 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 can directly review and help refine the analysis via Qiagen’s Ingenuity Variant Analysis, with the goal of jointly publishing 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 realise 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. At its core is the Ingenuity Knowledge Base, an expert-curated knowledge resource for next-generation biology.

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 invites open collaboration until 31 January 2014, leveraging crowd expertise on myopia physiology, epidemiology and filtering strategies. Substantive contributions will be recognised 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 their genome sequenced through PGP or other programs such as the Understand Your Genome (UYG) program to join the Empowered Genome Community. Participants will retain full control of their private data, can explore their genomes and, as desired, share them with each other and with full-time researchers in their own Variant Analysis accounts. By pooling their data and actively working with full-time researchers, members can make their genomes directly useful as controls or cases in future studies of diseases and other phenotypes.

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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