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Wednesday, September 23, 2009

Genetic studies through data warehousing

The i2b2 and related Crimson team recently published an article titled "Instrumenting the health care enterprise for discovery research in the genomic era". The article describes the potential to acquire large-scale samples needed for genetic studies by integrating data warehousing with lab systems.

Hospital network infrastructure for phenotyping and collecting biospecimens for biorepositories and omics data acquisition has so much more scale than current methods. New ideas and pioneering work in this area are likely to make a substantial impact in how translational research evolves over the next few years.

Recombinant expects to see both consented and non-consented/discarded sample models for high-scale phenotype-genotype matching. Ideally these models will integrate with translational research stacks such as i2b2, caBIG (caTissue/caGRID), and frameworks like GenePattern for analytics.

Recombinant is working on multiple projects to bring some of these ideas into an open source tool set that can be implemented across sites via the same model as i2b2.

Dan Housman
Managing Director, Analytical Applications

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