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全基因组关联分析在非洲所面临的方法学挑战。

Methodological challenges of genome-wide association analysis in Africa.

机构信息

Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.

出版信息

Nat Rev Genet. 2010 Feb;11(2):149-60. doi: 10.1038/nrg2731.

Abstract

Medical research in Africa has yet to benefit from the advent of genome-wide association (GWA) analysis, partly because the genotyping tools and statistical methods that have been developed for European and Asian populations struggle to deal with the high levels of genome diversity and population structure in Africa. However, the haplotypic diversity of African populations might help to overcome one of the major roadblocks in GWA research, the fine mapping of causal variants. We review the methodological challenges and consider how GWA studies in Africa will be transformed by new approaches in statistical imputation and large-scale genome sequencing.

摘要

非洲的医学研究尚未受益于全基因组关联 (GWA) 分析的出现,部分原因是为欧洲和亚洲人群开发的基因分型工具和统计方法难以处理非洲高水平的基因组多样性和人口结构。然而,非洲人群的单倍型多样性可能有助于克服 GWA 研究中的主要障碍之一,即因果变异的精细映射。我们回顾了方法学上的挑战,并探讨了统计推断和大规模基因组测序的新方法将如何改变非洲的 GWA 研究。

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