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转化生物信息学:整合电子健康记录和组学数据。

Translational Bioinformatics: Integrating Electronic Health Record and Omics Data.

机构信息

Department of Biostatistics, Epidemiology, & Informatics, Institute for Biomedical Informatics, The Perelman School of Medicine, University of Pennsylvania, D202 Richards Building, 3700 Hamilton Walk, Philadelphia, PA 19104, USA,

出版信息

Pac Symp Biocomput. 2021;26:356-359.

Abstract

Translational bioinformatics (TBI) is focused on the integration of biomedical data science and informatics. This combination is extremely powerful for scientific discovery as well as translation into clinical practice. Several topics where TBI research is at the leading edge are 1) the clinical utility of polygenic risk scores, 2) data integration, and 3) artificial intelligence and machine learning. This perspective discusses these three topics and points to the important elements for driving precision medicine into the future.

摘要

转化生物信息学(TBI)专注于整合生物医学数据科学和信息学。这种结合对于科学发现以及转化为临床实践具有非常强大的作用。TBI 研究处于前沿的几个领域包括 1)多基因风险评分的临床实用性,2)数据集成,以及 3)人工智能和机器学习。本观点讨论了这三个主题,并指出了推动精准医学未来发展的重要因素。

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