癌症基因组学相关数据管理与应用探析  

Cancer genomics-related data management and its application

作　　者：沈柳 郭海红[1] 郑思[1] 李姣[1] 

机构地区：[1]中国医学科学院医学信息研究所,北京100020

出　　处：《中华医学图书情报杂志》2016年第4期62-67,共6页Chinese Journal of Medical Library and Information Science

基　　金：国家卫生与计划生育委员会规划与信息司委托课题"健康医疗大数据应用国际经验研究";中央公益性科研院所基本科研业务费项目"医学信息学理论方法在转化医学研究的应用"(13R0101)研究成果之一

摘　　要：目的:梳理美国癌症基因组图谱计划相关数据的收集、整理、组织、共享及应用情况,为建立及完善国家级大型的癌症基因组学相关数据开放资源提供参考。方法:系统调研TCGA计划的数据管理相关机构工作流程、数据共享利用等方面的解决方案和最佳实践。结果:TCGA计划通过多中心合作,建立了组织样本采集、处理、质量控制、序列测定、特征分析、数据共享与研究应用等全链条的癌症基因组图谱数据管理流程,从所属癌症、数据类型、处理水平等角度对数据进行精细分类,并针对汇总数据和个体数据分别采取开放存取和受控访问两种共享机制,研究者利用其共享数据开展了相关癌症特征基因的突变、扩增和缺失以及受影响的信号通路等多方面研究。结论:癌症基因组图谱计划的实践探索可为大规模癌症基因组学相关研究计划的实施提供数据管理方面的经验与参考。Objective To provide reference for developing and perfecting the open resources of national-wide cancer genomics-related data by collecting, systematizing, organizing, sharing and applying the related data of the National Genome Atlas （ TCGA） Program. Methods The technical process, sharing and use of TCGA Program data were in-vestigated. Results TCGA established the whole linkage data management process by cooperating with multiple cen-ters, including tissue sample collection, processing, quality control, sequencing, characteristics analysis, data sharing and application of research achievements. The data were classified according to the related cancer, data types and their processing. The mutation, amplification and deficit of related cancer characteristic genes and the af-fected signaling pathways were studied according to the two sharing mechanisms underlying open access and con-trolled access to the collected data and individual data. Conclusion Studies on TCGA Program can provide experi-ences and reference in data management for the implementation of large scale TCGA Program.

关 键 词：科学数据共享 开放数据 癌症基因组图谱 数据管理 

分 类 号：R73-3[医药卫生—肿瘤]