The Biobank Portal for Partners Personalized Medicine: A Query Tool for Working with Consented Biobank Samples, Genotypes, and Phenotypes Using i2b2

被引：45

作者：

Gainer, Vivian S. ^{[1
]}

Cagan, Andrew ^{[1
]}

Castro, Victor M. ^{[1
]}

Duey, Stacey ^{[1
]}

Ghosh, Bhaswati ^{[1
]}

Goodson, Alyssa P. ^{[1
]}

Goryachev, Sergey ^{[1
]}

Metta, Reeta ^{[1
]}

Wang, Taowei David ^{[1
]}

Wattanasin, Nich ^{[1
]}

Murphy, Shawn N. ^{[1
,2
]}

机构：

[1] Partners HealthCare, One Constitut Ctr, Boston, MA 02129 USA

[2] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA

来源：

JOURNAL OF PERSONALIZED MEDICINE | 2016年 / 6卷 / 01期

关键词：

Biobank IT; personalized medicine IT; precision medicine IT; Biobank software; Biobank information technology; phenotype;

D O I：

10.3390/jpm6010011

中图分类号：

R19 [保健组织与事业（卫生事业管理）];

学科分类号：

摘要：

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.

引用

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