遗传祖源推断在药物基因组学中的应用。
Genetic Ancestry Inference for Pharmacogenomics.
机构信息
School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA.
National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA.
出版信息
Methods Mol Biol. 2022;2547:595-609. doi: 10.1007/978-1-0716-2573-6_21.
Genetic ancestry inference can be used to stratify patient cohorts and to model pharmacogenomic variation within and between populations. We provide a detailed guide to genetic ancestry inference using genome-wide genetic variant datasets, with an emphasis on two widely used techniques: principal components analysis (PCA) and ADMIXTURE analysis. PCA can be used for patient stratification and categorical ancestry inference, whereas ADMIXTURE is used to characterize genetic ancestry as a continuous variable. Visualization methods are critical for the interpretation of genetic ancestry inference methods, and we provide instructions for how the results of PCA and ADMIXTURE can be effectively visualized.
遗传血统推断可用于对患者队列进行分层，并在人群内和人群间模拟药物基因组学变异。我们提供了一个使用全基因组遗传变异数据集进行遗传血统推断的详细指南，重点介绍了两种广泛使用的技术：主成分分析（PCA）和 ADMIXTURE 分析。PCA 可用于患者分层和分类血统推断，而 ADMIXTURE 则用于将遗传血统表示为连续变量。可视化方法对于解释遗传血统推断方法至关重要，我们提供了有关如何有效地可视化 PCA 和 ADMIXTURE 结果的说明。
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