重大疾病基因组遗传大数据资源平台建设及其示范应用

Major diseases, with widespread impact, devastating effects and high cost of treatment, have devastated many families, severely increased social burdens, and slowed the country's transition from "rapid growth" to "high-quality development". Therefore, early warning, diagnosis and early intervention of the disease are particularly important. This application is for rolling funding of the early-stage cultivation project "Early Warning Research on the Risk of Rheumatoid Arthritis based on Genome Big data". The cultivation project was carried out smoothly under the guidance of "PAGE framework", and was fully affirmed by the expert group after two mid-term assessment. According to the opinions of the expert group and previous work, we plan to carry out the following researches: (1) Continue to upgrade, develop and improve the genetic big data resource database; (2) Deep integration of genetic big data, mining the characteristics of big data, and improving the risk assessment and early warning model of major diseases; (3) Implement the typical demonstration scenario of "Platform for Disease Risk Assessment based on Genomic Big Data". This project is the application of big genome data in the field of medical and health care. It is hoped that our early-warning platform for disease risk can become an effective means of personalized health intervention in the early stage of major diseases.

重大疾病影响范围广、危害严重、治疗费用高昂，对很多家庭造成了摧毁性打击，严重增加社会负担，减慢国家“从高速增长”向“高质量发展”转变的进程。因此，对疾病进行早期预警、诊断及早期干预尤为重要。本次申请对前期培育项目“基于基因组大数据的类风湿性关节炎发病风险预警研究”进行滚动资助。培育项目在“PAGE框架”的指导下，顺利开展，经过两次中期考核，专家组给予了充分肯定。依据专家组的意见，结合对前期进展的深度总结、凝练与升华，我们计划开展以下研究内容：(1)继续升级、开发、完善遗传大数据资源库； (2)深度融合遗传大数据，挖掘大数据特征，改进重大疾病风险评估、预警模型；(3)实现“基因组大数据疾病风险评估平台”典型示范场景落地。本项目是基因组大数据在医疗健康领域的情景分析与应用，希望我们的发病风险预警平台能够成为重大疾病早期个性化健康干预的有效手段。

重大疾病影响范围广、危害严重、治疗费用高昂，对很多家庭造成了摧毁性打击，严重增加社会负担，减慢国家“从高速增长”向“高质量发展”转变的进程。因此，对疾病进行早期预警、诊断及早期干预尤为重要。本项目是对前期培育项目的滚动资助。依据前期专家组的意见，本项目我们继续升级、开发、完善遗传大数据资源库及分析软件；研发与升级重大疾病风险评估模型；开展示范应用和实证研究。.1、任务完成情况：.在项目执行期间，开发升级了公共数据库1个，升级软件及在线分析云平台2个，发表高水平论文1篇(《advanced science》)，按计划完成了既定目标。.具体成果如下： .（1）升级遗传与表观遗传大数据资源平台。 .（2）依托大数据平台完成表观遗传大数据十年重要成果的发表工作。 .（3）升级遗传大数据分析软件EWAS。 .（4）升级重大疾病风险评估云平台。.（5）组织撰写重大研究计划丛书《基因组遗传大数据分析方法》，已通过专家组审核。 .2、科学意义：.利用基因组遗传大数据等新手段，研发早预警、早筛查、早干预等技术，从而维护与促进个体健康管理，对国家和社会发展尤为重要，本项目开发的遗传大数据资源平台和风险预警评估方法是这一过程中的关键步骤，将为实现这一目标提供有力的技术支撑。