Towards the Construction of the Information Infrastructure for Genome Medicine

• Published in: Lecture notes in computer science pp. 165 - 178
• Main Authors: Sakamoto, Norihiro, Nakaya, Jun
• Format: Book Chapter Conference Proceeding
• Language: English
• Published: Berlin, Heidelberg Springer Berlin Heidelberg 2005; Springer
• Series: Lecture Notes in Computer Science
• Subjects: Applied sciences; Computer science; control theory; systems; Computer systems and distributed systems. User interface; Exact sciences and technology; Software; Human; Statistical analysis; Probabilistic approach; Data mining; Information infrastructure; Modeling; Security of data; Public key cryptography; Knowledge discovery; Genetics; Internet; Genome; Medical application; Biomedical engineering; Applied research
• ISBN: 9783540278306; 3540278303
• ISSN: 0302-9743; 1611-3349
• DOI: 10.1007/11527725_18

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.