Bio-IT World Conference & Expo

Luncheon Presentation:

Wednesday, April 30, 2014; 1:10 – 1:40 pm

The Empowered Genome Community: First Insights from Shareable Joint Interpretation of Personal Genomes Research

Though genome sequencing is becoming more common, making each newly sequenced genome reliably health-informative will first require new scientific discoveries from thoroughly comparing many genomes, in light of who has particular diseases. Yet researchers still often lack enough well characterized genomes to informatively compare; and conversely, people who have been sequenced lack easy ways to explore their own genomes, and to usefully pool and compare them, for broader good. To jointly address these problems, we launched the Empowered Genome Community, an initiative bringing together people who have been sequenced through programs such as the Personal Genome Project (PGP) and Illumina’s Understand Your GenomeTM, and granting each member full access to her/his own genome in a secure online interpretive platform, Ingenuity Variant Analysis. There, members can explore their genomes privately – and, as desired, share them with other citizen-scientists and full-time researchers. Participants retain full ownership and control of their private data; and, because the platform’s interpretive functions are free for all users with active genomes in their accounts (whether their own, or shared from other users), the new effort can spark real collaborative discoveries about — and by — a growing cohort of individually well-sequenced and well-phenotyped people. Here we report early feedback and findings from this pioneering participatory whole genome effort, including proof-of-principle insights on a common complex disease (here, myopia) derived by open collaborative analysis of PGP genomes.


About Bio-IT World:

The 2014 Bio-IT World Conference & Expo plans to unite 2,500+ life sciences, pharmaceutical, clinical, healthcare, and IT professionals from 30+ countries. The Expo provides the perfect venue to share information and discuss enabling technologies that are driving biomedical research, bioinformatics and the drug development process.

Since its debut in 2002, the annual Bio-IT World Conference & Expo has established itself as a premier event showcasing the myriad applications of IT and informatics to biomedical research and the drug discovery enterprise. The 2014 program will feature compelling talks from industry and academia on new trends in data generation, knowledge management, and information technology in life sciences and drug development, including best practice case studies and joint partner presentations relevant to the technologies, research, and regulatory issues of life science, pharmaceutical, clinical and IT professionals.

Learn more here.