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MixFit:个体层面计算与血统相关的遗传分数的方法及其在爱沙尼亚和芬兰人群研究中的应用。

MixFit: Methodology for Computing Ancestry-Related Genetic Scores at the Individual Level and Its Application to the Estonian and Finnish Population Studies.

作者信息

Haller Toomas, Leitsalu Liis, Fischer Krista, Nuotio Marja-Liisa, Esko Tõnu, Boomsma Dorothea Irene, Kyvik Kirsten Ohm, Spector Tim D, Perola Markus, Metspalu Andres

机构信息

Estonian Genome Center, University of Tartu, Tartu, Estonia.

Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.

出版信息

PLoS One. 2017 Jan 20;12(1):e0170325. doi: 10.1371/journal.pone.0170325. eCollection 2017.

Abstract

Ancestry information at the individual level can be a valuable resource for personalized medicine, medical, demographical and history research, as well as for tracing back personal history. We report a new method for quantitatively determining personal genetic ancestry based on genome-wide data. Numerical ancestry component scores are assigned to individuals based on comparisons with reference populations. These comparisons are conducted with an existing analytical pipeline making use of genotype phasing, similarity matrix computation and our addition-multidimensional best fitting by MixFit. The method is demonstrated by studying Estonian and Finnish populations in geographical context. We show the main differences in the genetic composition of these otherwise close European populations and how they have influenced each other. The components of our analytical pipeline are freely available computer programs and scripts one of which was developed in house (available at: www.geenivaramu.ee/en/tools/mixfit).

摘要

个体层面的祖先信息对于个性化医疗、医学、人口统计学和历史研究以及追溯个人历史而言,可能是一项宝贵资源。我们报告了一种基于全基因组数据定量确定个人遗传祖先的新方法。通过与参考人群进行比较,为个体分配数值化的祖先成分分数。这些比较是利用现有的分析流程进行的,该流程运用了基因型分型、相似性矩阵计算以及我们开发的通过MixFit进行的加法-多维最佳拟合。通过在地理背景下研究爱沙尼亚和芬兰人群来演示该方法。我们展示了这些在其他方面相近的欧洲人群在基因组成上的主要差异以及它们如何相互影响。我们分析流程的组件是免费提供的计算机程序和脚本,其中一个是内部开发的(可在:www.geenivaramu.ee/en/tools/mixfit获取)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7225/5249084/93ade88e7d79/pone.0170325.g001.jpg

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