引用本文:李伟,王士泉.基于专病队列的重大疾病临床样本生命组学数据库建设[J].中华医学图书情报杂志,2017,26(6):11-16.
基于专病队列的重大疾病临床样本生命组学数据库建设
Development of bio-genomics database for major disease clinical samples based on specific disease cohort
DOI:10.3969/j.issn.1671-3982.2017.06.003
中文关键词:  基因组  临床表型  融合  精准医学  生命组学  数据共享  数据质量
英文关键词:Genome  Clinical phenotype  Integration  Precision medicine  Bio-genomics  Data sharing  Data quality
基金项目:
作者单位
李伟 火箭军总医院核与辐射损伤实验室北京100088 
王士泉 神州数码医疗科技股份有限公司北京100080 
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中文摘要:
      目的:探索全国范围的重大疾病临床样本生命组学数据协作网络及生命组学数据库建设。方法:调查疾病队列临床表型及组学数据现状,分析重大疾病临床样本生命组学数据协作网络及数据库建设的内容,并探讨各项任务的关键技术问题。结果:提出了重大疾病生命组学数据库建设涉及的关键内容及技术环节,指出利用PheWAS方法解决表型与组学领域新技术的融合,以及多粒度、多模态检索及计算服务问题。结论:建立数据协作流程、安全管理的标准规范、研发协作网络平台及数据库,基于数据协助网络开展精准医学大数据融合的服务模式研究,对推动我国精准医学计划长远目标实现意义重大。
英文摘要:
      Objective To study the nation-wide cooperation network of bio-genomics for major disease clinical samples and the development of bio-genomics database.〖WTHZ〗Methods The clinical phenotypes and genomics data of disease cohort were investigated,the cooperation network of bio-genomics for major disease clinical samples and the development of bio-genomics database were analyzed,the key technologies for different tasks were studied.〖WTHZ〗Results The key contents and technologies involving the development of bio-genomics database for major disease clinical samples were proposed and how to solve the following problems was pointed out,including the integration of phenotypes and new technologies in the genomics field,multi-granular and multi-modular retrieval,and computing service.〖WTHZ〗Conclusion It is of great importance to establish the standards for data cooperation process and data security management,to research and develop platform for cooperation network and database,to study the service model for the integration of big data in precision medicine based on data cooperation network.
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