Towards the construction of the information infrastructure for genome medicine

2005 
One of the most expected applications of the human genome information is the development of genome medicine. Towards this goal, basic and applied biomedical laboratory researches and developments have been steadily in progress. However, clinical genome informatics and its applications in practice have been making slower progress compared to biomedical laboratory works. In order to facilitate the progress of clinical genome informatics and its powerful application to the development of genome medicine, the construction of the information infrastructure for genome medicine calls for urgent attention. In this paper, we propose the architecture of the information infrastructure for genome medicine. It is required to provide three essential features: security mechanisms, comprehensive information models, and intelligent analyzers. To implement these features, we employed PKI as the security mechanisms and the HL7 Version 3 as the information models. To analyze information, knowledge discovery tools are expected to be implemented in addition to a lot of clinical and genetic statistical functions.
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