The Mass General Brigham Biobank Portal: an i2b2-based data repository linking disparate and high-dimensional patient data to support multimodal analytics

作者：Víctor M. Castro, Vivian S. Gainer, Nich Wattanasin, Barbara Benoit, Andrew Cagan, Bhaswati Ghosh, Sergey Goryachev, Reeta Metta, Heekyong Park, David Wang, Michael Mendis, Martin Rees, Christopher Herrick, Shawn N. Murphy · 发表于：Journal of the American Medical Informatics Association · 年份：2021 · DOI：10.1093/jamia/ocab264 · 被引用次数：71 · 研究领域：Genomics and Rare Diseases、Genetic Associations and Epidemiology、Biomedical Text Mining and Ontologies

OBJECTIVE: Integrating and harmonizing disparate patient data sources into one consolidated data portal enables researchers to conduct analysis efficiently and effectively. MATERIALS AND METHODS: We describe an implementation of Informatics for Integrating Biology and the Bedside (i2b2) to create the Mass General Brigham (MGB) Biobank Portal data repository. The repository integrates data from primary and curated data sources and is updated weekly. The data are made readily available to investigators in a data portal where they can easily construct and export customized datasets for analysis. RESULTS: As of July 2021, there are 125 645 consented patients enrolled in the MGB Biobank. 88 527 (70.5%) have a biospecimen, 55 121 (43.9%) have completed the health information survey, 43 552 (34.7%) have genomic data and 124 760 (99.3%) have EHR data. Twenty machine learning computed phenotypes are calculated on a weekly basis. There are currently 1220 active investigators who have run 58 793 patient queries and exported 10 257 analysis files. DISCUSSION: The Biobank Portal allows noninformatics researchers to conduct study feasibility by querying across many data sources and then extract data that are most useful to them for clinical studies. While institutions require substantial informatics resources to establish and maintain integrated data repositories, they yield significant research value to a wide range of investigators. CONCLUSION: The Biobank Portal and other patient data p...