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Visualization of haplotype sharing patterns in pedigree samples

机译:谱系样本中单倍型共享模式的可视化

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Objectives: A particular approach to the visualization of descent of founder DNA copies in a pedigree has been suggested, which helps to understand haplotype sharing patterns among subjects of interest. However, the approach does not provide the information in an ideal format to show haplotype sharing patterns. Therefore, we aimed to find an efficient way to visualize such sharing patterns and to demonstrate that our tool provides useful information for finding an informative subset of subjects for a sequence study. Methods: The visualization package, SharedHap, computes and visualizes a novel metric, the SharedHap proportion, which quantifies haplotype sharing among a set of subjects of interest. We applied SharedHap to simulated and real pedigree datasets to illustrate the approach. Results: SharedHap successfully represents haplotype sharing patterns that contribute to linkage signals in both simulated and real datasets. Using the visualizations we were also able to find ideal sets of subjects for sequencing studies. Conclusions: Our novel metric that can be computed using the SharedHap package provides useful information about haplotype sharing patterns among subjects of interest. The visualization of the SharedHap proportion provides useful information in pedigree studies, allowing for a better selection of candidate subjects for use in further sequencing studies.
机译:目的:已经提出了一种可视化创建者DNA副本在系谱中下降的特殊方法,这有助于了解感兴趣的受试者之间的单倍型共享模式。但是,该方法没有以理想的格式提供信息以显示单元型共享模式。因此,我们旨在寻找一种有效的方式来可视化此类共享模式,并证明我们的工具可提供有用的信息,以找到序列研究的主题丰富的子集。方法:可视化程序包SharedHap用于计算和可视化一种新颖的指标SharedHap比例,该度量可量化一组感兴趣的受试者之间的单体型共享。我们将SharedHap应用于模拟和真实谱系数据集以说明该方法。结果:SharedHap成功代表了单体型共享模式,这些模式有助于模拟和真实数据集中的链接信号。使用可视化,我们还能够找到理想的测序研究对象集。结论:我们可以使用SharedHap软件包计算的新颖度量标准提供了有关感兴趣受试者之间单倍型共享模式的有用信息。 SharedHap比例的可视化为谱系研究提供了有用的信息,从而可以更好地选择候选主题以用于进一步的测序研究。

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