The integration of phenotypic and genotypic data : a systematic review and evaluation of interoperability models : capstone project

摘要: Background: Bridging the gap between genotype and phenotype is one of foremost goals biomedicine, consequently biomedical informatics. Effective networking biologists clinicians to augment technology with genotypic phenotypic knowledge will accelerate translational research process enhance possibility bridging toward an integrative genotype-phenotype system that could be incorporated in patients' personal medical records. Methods: The methods for this project included a systematic review articles describing systems integration data. A subset these were scored on quality measures. scoring method assigned points based scale (0, 1-3), accordance modified Matrix Criteria System evaluation scaling. SPSS 12.0 Microsoft Excel used carry out data analysis. Results: Based literature review, there are 107 different projects worldwide which related directly or indirectly majority centered USA 37% followed by UK 14% then France 7%. Collaborative Europe represented 10% projects. international community collaborative work constituted 3% detailed analysis was conducted two high (PharmGKB PhenomicDB). Database functions as major criterion employed critically compare database category includes user interface, design, reporting, & platforms, performance. Conclusion: Future genomic medicine need use advanced wellcalculated diagnostic tests order provide targeted treatments their patients road personalized care.