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POLYGENIC RISK SCORES FOR PREDICTING DISEASE COMPLICATIONS AND/OR RESPONSE TO THERAPY

机译:用于预测疾病并发症和/或对治疗的反应的多基因风险评分

摘要

Methods, processes, and systems for predicting a subject's disease complications and/or response to therapy are described herein. The methods generally comprise genotyping or receiving genotyping information from the subject at a plurality of risk alleles associated with the disease and at a plurality of ancestry-informative markers. The genotyping information is used to generate a polygenic risk score (PRS) by weighting the number of risk alleles by the effect size of their association (weighted genetic risk score or wGRS), combined with a geo -ethnic principal component (PC) determined from the subject's genotype at said ancestry-informative markers. The PRS enables better prediction of the subject's disease complications and/or response to therapy, as compared to a corresponding PRS generated lacking the geo- ethnic principal component. Computer-implemented methods and processes are also described herein.
机译:本文描述了预测受试者疾病并发症和/或对治疗的反应的方法,过程和系统。该方法通常包含与疾病相关的多个风险等位基因的基因分型或从受试者接受基因分型信息,并在多个血统信息标记处。基因分型信息用于通过将其关联的效果大小(加权遗传风险评分或WGRs)加权风险等位基因的数量来产生多基因风险评分(PRS),结合从中确定的地理族类主成分(PC)主体在所述祖先 - 信息标志处的基因型。与产生的地质族主要成分产生的相应条件相比,PRS能够更好地预测受试者的疾病并发症和/或对治疗的反应。本文还描述了计算机实现的方法和过程。

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