个体基因组信息得益于大数据的积累,其应用不再局限于科学研究,正在经历逐步走向日常医疗实践的过程中。对疾病关联基因组信息的系统整理、归档及合理应用配置是未来精准医学的重要基础。血红蛋白病在我国南方发病率高,其分子病理学基础有明显的种族特异性。为助力我国南方血红蛋白病的临床诊断和遗传筛查的应用,本项目团队建立了中国人群血红蛋白病变异谱及表型谱LOVD基因变异数据管理系统,并通过设计全面整合和高效分析的在线辅助精确诊断及风险评估系统,展示了基于云端标准化的特定血红蛋白病变异注释库和诊断知识库辅助医生快速做出综合、全面的诊断和遗传咨询的操作。通过数据整合和人工智能技术的结合提高疾病临床决策效率的方法和经验,可为其他疾病的临床和预防应用起示范作用。

Personal genomic information benefits from accumulated big data and its application is no longer limited to scientific research. Presently, it is undergoing the transformation to daily medical practice. Systematic arrangement, archiving and rational utilization of disease-related genomic information is an important foundation of future precision medicine. Hemoglobinopathy is prevalent in southern China, but its molecular pathological basis has racial specificity. To facilitate clinical diagnosis and genetic screening of hemoglobinopathy in southern China, we established the LOVD gene data management system for the variation and phenotype spectrum of hemoglobinopathy. Then we designed an integrated and efficient on-line auxiliary accurate diagnosis and risk assessment system in order to assist clinicians to make comprehensive diagnosis and genetic counseling in a short time based on cloud standardized annotated library of specific hemoglobinopathy variants and diagnostic repository. The methodology and experience of improving the clinical decision-making efficiency of diseases with big data and artificial intelligence technology can be used as an example in the clinical and preventive application of other diseases.