S. Harder, L. Clemmensen, Anders L. Dahl, J. D. Andersen, P. Johansen, Susanne R. Christoffersen, N. Morling, C. Børsting, R. Paulsen
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Each CC comprised two correlated canonical variables, consisting of a linear combination of SPCs and a linear combination of SNPs, respectively. The significant canonical variables for color and texture were primarily explained by the first SPC (SPC1). Therefore, we made a visual inspection of the first SPCs. The color based SPC1 explained a blue to brown variation in iris color and the texture based SPC1 gave a general explanation of iris texture. The SNPs (rs12896399, rs3733542, rs6475555, rs12913832) and (rs12896399, rs3733542, rs12913832) had the highest correlation to the canonical variable for color and texture, respectively. 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引用次数: 2
摘要
介绍的工作涉及从基因型预测复杂的人类表型。我们感兴趣的是将虹膜的颜色和纹理与 DNA 联系起来。我们的数据包括 212 幅眼睛图像和 DNA:32 个单核苷酸多态性 (SNP)。我们使用两种生物统计学方法来描述眼睛图像:一种是虹膜颜色,另一种是虹膜纹理。这两种生物统计量的维度都很高,稀疏原理成分分析(SPCA)降低了维度,使数据表示具有良好的可解释性。稀疏主成分 (SPC) 与 32 个 SNP 之间的相关性是通过典型相关分析 (CCA) 发现的。结果发现,这两种生物统计学指标之间存在单个显著的典型相关性(CC)。每个 CC 包括两个相关的典型变量,分别由 SPC 的线性组合和 SNP 的线性组合组成。颜色和纹理的重要典型变量主要由第一个 SPC(SPC1)解释。因此,我们对第一个 SPC 进行了目测。基于颜色的 SPC1 解释了虹膜颜色从蓝色到棕色的变化,而基于纹理的 SPC1 则对虹膜纹理做出了一般性解释。SNP(rs12896399、rs3733542、rs6475555、rs12913832)和(rs12896399、rs3733542、rs12913832)分别与颜色和纹理的典型变量具有最高的相关性。两个生物统计学中贡献最大的 SNPs 有三个是相同的,这揭示了虹膜颜色和纹理之间的协方差。
The presented work concerns prediction of complex human phenotypes from genotypes. We were interested in correlating iris color and texture with DNA. Our data consist of 212 eye images along with DNA: 32 single-nucleotide polymorphisms (SNPs). We used two types of biometrics to describe the eye images: One for iris color and one for iris texture. Both biometrics were high dimensional and a sparse principle component analysis (SPCA) reduced the dimensions and resulted in a representation of data with good interpretability. The correlations between the sparse principal components (SPCs) and the 32 SNPs were found using a canonical correlation analysis (CCA). The result was a single significant canonical correlation (CC) for both biometrics. Each CC comprised two correlated canonical variables, consisting of a linear combination of SPCs and a linear combination of SNPs, respectively. The significant canonical variables for color and texture were primarily explained by the first SPC (SPC1). Therefore, we made a visual inspection of the first SPCs. The color based SPC1 explained a blue to brown variation in iris color and the texture based SPC1 gave a general explanation of iris texture. The SNPs (rs12896399, rs3733542, rs6475555, rs12913832) and (rs12896399, rs3733542, rs12913832) had the highest correlation to the canonical variable for color and texture, respectively. Three of the most contributing SNPs were the same for both biometrics, revealing a covariance between iris color and texture.