The textile plot: a new linkage disequilibrium display of multiple-single nucleotide polymorphism genotype data.

The textile plot: a new linkage disequilibrium display of multiple-single nucleotide polymorphism genotype data.
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DOI:
10.1371/journal.pone.0010207
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发表时间:
2010-04-27
期刊:
影响因子:
3.7
通讯作者:
Kamatani N
Kamatani N
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Kumasaka N;Nakamura Y;Kamatani N

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由于单核苷酸多态(SNP)基因标记密度的显著增加,连锁不平衡(LD)是许多遗传学研究中的一个主要问题。SNP数量的急剧增加可能会在统计分析中造成问题,例如在假设检验中引入多重比较,在Logistic回归模型中引入共线性,因为存在复杂的LD结构。在将统计模型应用于数据之前,必须通过LD结构对潜在的遗传变异做出推断。因此,我们引入了纺织图,以提供LD的可视化,以改进对多个SNP基因型数据中存在的遗传变异的分析。该图可以通过显示特定的几何形状来突出LD,并允许在没有任何单倍型阶段算法的情况下推断潜在的单倍型结构。这项技术在模拟和真实数据集上的应用说明了纺织图作为解释多SNP基因数据中LD的潜在用处。疾病基因的LD作图和单倍型分析的初步结果令人鼓舞,表明该纺织图谱可能在疾病相关性研究中有用。
Linkage disequilibrium (LD) is a major concern in many genetic studies because of the markedly increased density of SNP (Single Nucleotide Polymorphism) genotype markers. This dramatic increase in the number of SNPs may cause problems in statistical analyses, such as by introducing multiple comparisons in hypothesis testing and colinearity in logistic regression models, because of the presence of complex LD structures. Inferences must be made about the underlying genetic variation through the LD structure before applying statistical models to the data. Therefore, we introduced the textile plot to provide a visualization of LD to improve the analysis of the genetic variation present in multiple-SNP genotype data. The plot can accentuate LD by displaying specific geometrical shapes, and allowing for the underlying haplotype structure to be inferred without any haplotype-phasing algorithms. Application of this technique to simulated and real data sets illustrated the potential usefulness of the textile plot as an aid to the interpretation of LD in multiple-SNP genotype data. The initial results of LD mapping and haplotype analyses of disease genes are encouraging, indicating that the textile plot may be useful in disease association studies.
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