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    • 2. 发明申请
    • System and method for integrating and validating genotypic, phenotypic and medical information into a database according to a standardized ontology
    • 根据标准化本体将基因型,表型和医学信息整合并验证成数据库的系统和方法
    • US20070178501A1
    • 2007-08-02
    • US11634550
    • 2006-12-06
    • Matthew RabinowitzJonathan SheenaZachary DemkoChristopher ClarkNigam Shah
    • Matthew RabinowitzJonathan SheenaZachary DemkoChristopher ClarkNigam Shah
    • C12Q1/68G06F19/00G06Q50/00
    • G06Q50/22G06Q50/24
    • The system described herein enables clinicians and researchers to use aggregated genetic and phenotypic data from clinical trials and medical records to make the safest, most effective treatment decisions for each patient. This involves (i) the creation of a standardized ontology for genetic, phenotypic, clinical, pharmacokinetic, pharmacodynamic and other data sets, (ii) the creation of a translation engine to integrate heterogeneous data sets into a database using the standardized ontology, and (iii) the development of statistical methods to perform data validation and outcome prediction with the integrated data. The system is designed to interface with patient electronic medical records (EMRs) in hospitals and laboratories to extract a particular patient's relevant data. The system may also be used in the context of generating phenotypic predictions and enhanced medical laboratory reports for treating clinicians. The system may also be used in the context of leveraging the huge amount of data created in medical and pharmaceutical clinical trials. The ontology and validation rules are designed to be flexible so as to accommodate a disparate set of clients. The system is also designed to be flexible so that it can change to accommodate scientific progress and remain optimally configured.
    • 本文描述的系统使临床医师和研究人员能够使用来自临床试验和医疗记录的综合遗传和表型数据,为每位患者做出最安全,最有效的治疗决定。 这涉及(i)为遗传,表型,临床,药代动力学,药效学和其他数据集创建标准化本体,(ii)创建翻译引擎以将异构数据集合集成到使用标准化本体的数据库中,以及( iii)开发统计方法,使用综合数据进行数据验证和结果预测。 该系统旨在与医院和实验室中的患者电子病历(EMR)进行接口,以提取特定患者的相关数据。 该系统也可用于产生表型预测和增强的用于治疗临床医师的医学实验室报告。 该系统也可以在利用在医疗和药物临床试验中创造的大量数据的背景下使用。 本体和验证规则被设计为灵活的,以容纳不同的客户端集合。 该系统还被设计为灵活的,以便它可以改变以适应科学进步并保持最佳配置。