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Local and Global Ancestry Inference and Applications to Genetic Association Analysis for Admixed Populations

机译:局部和全局祖先推断及其在混合种群遗传关联分析中的应用

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摘要

Genetic association studies in recently admixed populations offer exciting opportunities for the identification of variants underlying phenotypic diversity. At the same time, genetic heterogeneity due to population admixture has to be accounted for in order to ensure validity of association tests. The whole genome sequence data and the genome-wide single nucleotide polymorphism chip data for Mexican American individuals provided by the Genetic Analysis Workshop 18 (GAW18) presents a unique opportunity to evaluate and compare methods for the statistical analysis of admixed genetic data. We summarize here the five contributions from the GAW18 Admixture group. Although group members considered a variety of research topics, the general theme was inference and consideration of ancestry admixture in genetic analyses. The topics considered can be grouped into three categories: (1) global and local ancestry inference and estimation; (2) association and admixture mapping; and (3) genotype imputation in admixed samples. We describe the approaches that were used and the most relevant findings from individual contributions. We also provide insight into the strengths and limitations of the state-of-the-art methods considered for genetic analyses in admixed populations.
机译:最近混合人群中的遗传关联研究为鉴定表型多样性的变异提供了令人兴奋的机会。同时,必须考虑由于种群混合造成的遗传异质性,以确保关联测试的有效性。遗传分析研讨会18(GAW18)提供的墨西哥裔美国人的全基因组序列数据和全基因组范围内的单核苷酸多态性芯片数据,为评估和比较混合遗传数据的统计分析方法提供了独特的机会。我们在此总结GAW18外加剂组的五项贡献。尽管小组成员考虑了各种研究主题,但总的主题是遗传分析中的祖先混合物的推论和考虑。所考虑的主题可以分为三类:(1)全球和本地祖先推理和估计; (2)关联和混合映射; (3)混合样本中的基因型推算。我们描述了所使用的方法以及个人贡献中最相关的发现。我们还提供了对混合人群中进行遗传分析的最新方法的优势和局限性的见解。

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