The NIDDK Central Repository at 8 years-Ambition, Revision, Use and Impact
The NIDDK Central Repository at 8 years-Ambition, Revision, Use and Impact
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DOI：
10.1093/database/bar043
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发表时间：
2011-01-01
影响因子：
5.8
通讯作者：
Cooley, Philip C.
中科院分区：
文献类型：
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作者：
Turner, Charles F.;Pan, Huaqin;Cooley, Philip C.
国家糖尿病、消化和肾脏疾病研究所（NIDDK）中央储存库将NIDDK资助的研究的数据和生物标本提供给更广泛的科学界。因此，它有助于：在没有新数据或生物标本收集的情况下测试新假设；汇集多个研究的数据以提高统计能力；以及利用基因库精心整理的表型数据进行信息丰富的遗传分析。本文使用一个更简单的模型描述了Repository的初始数据库计划及其修订。从中获得的经验教训包括在数据库设计的复杂性与实现的时间和金钱成本之间进行权衡；将同意文件纳入基本设计的重要性迫切需要将生物标本id与沉积数据集中使用的屏蔽主题id相关联的链接文件；以及在分发之前测试数据集完整性的标准化程序的重要性。该信息库目前正在跟踪111项正在进行的niddk资助的研究，其中许多研究包括基因型数据，它拥有超过25种类型的500多万个生物标本，包括血清、血浆、粪便、尿液、DNA、红细胞、灰褐色皮毛和组织。存储库资源支持了一系列生物化学、临床、统计和遗传学研究（188个外部临床数据请求和31个生物标本请求已获批准或正在等待）。遗传研究包括GWAS、验证研究、开发提高GWAS统计能力的方法以及测试用于遗传研究的新统计方法。我们预计，储存库资源对生物医学研究的未来影响将通过以下方式得到加强：(i)在其他可搜索数据库和生物库目录中交叉列出储存库生物标本；（ii）持续部署新应用程序，以查询储存库的内容；（iii）在研究和不同存储库使用的词汇表之间增加了程序、数据收集策略、问卷等的协调。数据库地址：http://www.niddkrepository.org
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Central Repository makes data and biospecimens from NIDDK-funded research available to the broader scientific community. It thereby facilitates: the testing of new hypotheses without new data or biospecimen collection; pooling data across several studies to increase statistical power; and informative genetic analyses using the Repository's well-curated phenotypic data. This article describes the initial database plan for the Repository and its revision using a simpler model. Among the lessons learned were the trade-offs between the complexity of a database design and the costs in time and money of implementation; the importance of integrating consent documents into the basic design; the crucial need for linkage files that associate biospecimen IDs with the masked subject IDs used in deposited data sets; and the importance of standardized procedures to test the integrity data sets prior to distribution. The Repository is currently tracking 111 ongoing NIDDK-funded studies many of which include genotype data, and it houses over 5 million biospecimens of more than 25 types including serum, plasma, stool, urine, DNA, red blood cells, buffy coat and tissue. Repository resources have supported a range of biochemical, clinical, statistical and genetic research (188 external requests for clinical data and 31 for biospecimens have been approved or are pending). Genetic research has included GWAS, validation studies, development of methods to improve statistical power of GWAS and testing of new statistical methods for genetic research. We anticipate that the future impact of the Repository's resources on biomedical research will be enhanced by (i) cross-listing of Repository biospecimens in additional searchable databases and biobank catalogs; (ii) ongoing deployment of new applications for querying the contents of the Repository; and (iii) increased harmonization of procedures, data collection strategies, questionnaires etc. across both research studies and within the vocabularies used by different repositories. Database URL: http://www.niddkrepository.org