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Genomic measurements are now commodities (a million genomic variants measured on a single invididual can be purchased for a few hundred dollars). Phenotyping and sample acquisition remain labor intensive and expensive and therefore represent one of the most important rate limiting steps in reliably translating genomic information into clinically relevant knowledge. We are leveraging the massive investment in providing healthcare to our populations by using the by products of this process for high-throughput phenotyping and sample acquisition so that the last two processes are as scaleable and genomic measurements. Our latest effort in this regard includes "Informatics for Integrating Biology to the Bedside" a National Center for Biomedical Computing designed to test our ability to turn large healthcare systems into "living laboratories" in the genomic era. Already discoveries are being made in diabetes, asthma, hypertension and Huntington's Disease and our freely avaialble toolkits are being commericially implemented at several academic health centers by third parties (with which we have no financial links). We have also developed a model system, called the Informed Cohort to allow us to overcome the pact of mutual ignorance entered into by subject and research so that study subjects can personally and directly benefit from the information they have contributed to the study. Other related projects inclluded the Shared Pathology Informatics Network, a decentralized system for sharing pathology samples for research, and NMESH, a system to broad broad geographic views of population health, particulary for use in case of disasters.
All these Systems are freely available under open source license.
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