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PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability

机译:PheKB:用于创建可传输性的电子表型算法的目录和工作流程

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摘要

>Objective Health care generated data have become an important source for clinical and genomic research. Often, investigators create and iteratively refine phenotype algorithms to achieve high positive predictive values (PPVs) or sensitivity, thereby identifying valid cases and controls. These algorithms achieve the greatest utility when validated and shared by multiple health care systems.>Materials and Methods We report the current status and impact of the Phenotype KnowledgeBase (PheKB, ), an online environment supporting the workflow of building, sharing, and validating electronic phenotype algorithms. We analyze the most frequent components used in algorithms and their performance at authoring institutions and secondary implementation sites.>Results As of June 2015, PheKB contained 30 finalized phenotype algorithms and 62 algorithms in development spanning a range of traits and diseases. Phenotypes have had over 3500 unique views in a 6-month period and have been reused by other institutions. International Classification of Disease codes were the most frequently used component, followed by medications and natural language processing. Among algorithms with published performance data, the median PPV was nearly identical when evaluated at the authoring institutions (n = 44; case 96.0%, control 100%) compared to implementation sites (n = 40; case 97.5%, control 100%).>Discussion These results demonstrate that a broad range of algorithms to mine electronic health record data from different health systems can be developed with high PPV, and algorithms developed at one site are generally transportable to others.>Conclusion By providing a central repository, PheKB enables improved development, transportability, and validity of algorithms for research-grade phenotypes using health care generated data.
机译:>目的:医疗保健生成的数据已成为临床和基因组研究的重要来源。研究人员通常会创建并迭代地完善表型算法,以实现较高的阳性预测值(PPV)或敏感性,从而确定有效的病例和对照。这些算法在被多个医疗保健系统验证和共享后,将发挥最大的效用。>材料和方法我们报告了表型知识库(PheKB,)的现状和影响,该表型在线环境支持构建工作流程,共享和验证电子表型算法。 >结果截至2015年6月,PheKB包含30个最终表型算法和62个开发中的算法,它们跨越了一系列特征和疾病。表型在6个月的时间里拥有3500多个独特的视图,并已被其他机构重用。国际疾病分类代码是最常用的组成部分,其次是药物和自然语言处理。在具有已发布性能数据的算法中,与实施站点(n = 40;案例97.5%,对照组100%)相比,在创作机构进行评估时,PPV的中位数几乎相同(n = 44;案例96.0%,对照组100%)。 >讨论这些结果表明,可以使用高PPV来开发各种算法来挖掘来自不同卫生系统的电子健康记录数据,并且在一个站点开发的算法通常可以移植到其他站点。>结论通过提供一个中央存储库,PheKB使用医疗保健生成的数据来改进研究级表型的算法的开发,可移植性和有效性。

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