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Information-theoretic identification of predictive SNPs and supervised visualization of genome-wide association studies

机译:预测性SNP的信息理论鉴定和全基因组关联研究的监督可视化

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摘要

The size, dimensionality and the limited range of the data values makes visualization of single nucleotide polymorphism (SNP) datasets challenging. The purpose of this study is to evaluate the usefulness of 3D VizStruct, a novel multi-dimensional datavisualization technique for SNP datasets capable of identifying informative SNPs in genome-wide association studies. VizStruct is an interactive visualization technique that reduces multi-dimensional data to three dimensions using a combination of the discrete Fourier transform and the Kullback–Leibler divergence. The performance of 3D VizStruct was challenged with several diverse, biologically relevant published datasets including the human lipoprotein lipase (LPL) gene locus, the human Y-chromosomein several populations and a multi-locus genotype dataset of coral samples from four populations. In every case, the SNPs and or polymorphic markers identified by the 3D VizStruct mapping were predictive of the underlying biology.
机译:数据值的大小,维数和有限范围使单核苷酸多态性(SNP)数据集的可视化具有挑战性。这项研究的目的是评估3D VizStruct的有用性,这是一种新颖的多维数据可视化技术,用于SNP数据集,能够在全基因组关联研究中识别信息丰富的SNP。 VizStruct是一种交互式可视化技术,通过结合使用离散傅里叶变换和Kullback-Leibler散度将多维数据缩减为三个维度。 3D VizStruct的性能受到几个不同的,生物学上相关的公开数据集的挑战,这些数据集包括人类脂蛋白脂肪酶(LPL)基因位点,人类Y染色体某些种群以及来自四个种群的珊瑚样本的多位点基因型数据集。在每种情况下,通过3D VizStruct映射确定的SNP和/或多态性标志物都可以预测潜在的生物学特性。

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