The Biobank Portal for Partners Personalized Medicine: A Query Tool for Working with Consented Biobank Samples, Genotypes, and Phenotypes Using i2b2
The Biobank Portal for Partners Personalized Medicine: A Query Tool for Working with Consented Biobank Samples, Genotypes, and Phenotypes Using i2b2
复制标题
DOI：
10.3390/jpm6010011
复制
发表时间：
2016-03-01
影响因子：
--
通讯作者：
Murphy, Shawn N.
中科院分区：
文献类型：
--
作者：
Gainer, Vivian S.;Cagan, Andrew;Murphy, Shawn N.
我们设计了一个生物库门户网站，让研究人员请求生物库样本和基因型数据，查询相关的电子健康记录，并设计和下载包含有关同意的生物库受试者的去识别属性的数据集。这种自助功能将各种各样的数据放在研究人员的指尖，使他们能够从复杂的表型数据中创建用于临床和基因组研究的自定义数据集，并快速获得相应的样本和基因组数据。生物库门户网站建立在i2b2基础设施上[1]，并使用开放源代码的Web客户端，可供教师和其他研究人员在机构防火墙后面使用。内置的隐私措施[2]确保门户网站中的数据仅根据患者同意的流程使用。
We have designed a Biobank Portal that lets researchers request Biobank samples and genotypic data, query associated electronic health records, and design and download datasets containing de-identified attributes about consented Biobank subjects. This do-it-yourself functionality puts a wide variety and volume of data at the fingertips of investigators, allowing them to create custom datasets for their clinical and genomic research from complex phenotypic data and quickly obtain corresponding samples and genomic data. The Biobank Portal is built upon the i2b2 infrastructure [1] and uses an open-source web client that is available to faculty members and other investigators behind an institutional firewall. Built-in privacy measures [2] ensure that the data in the Portal are utilized only according to the processes to which the patients have given consent.