Kim Sulgi, Saad Mohamad, Tsuang Debby W, Wijsman Ellen M
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Wash., USA.
Hum Hered. 2014;78(1):1-8. doi: 10.1159/000358171. Epub 2014 Jun 21.
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.
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.
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.
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.
有人提出了一种在谱系中可视化奠基者DNA拷贝遗传的特定方法，这有助于理解感兴趣的个体间的单倍型共享模式。然而，该方法并未以理想的格式提供展示单倍型共享模式的信息。因此，我们旨在找到一种有效的方法来可视化此类共享模式，并证明我们的工具为寻找序列研究中有信息价值的个体子集提供了有用信息。
可视化软件包SharedHap计算并可视化一种新的指标——SharedHap比例，该指标量化了一组感兴趣个体间的单倍型共享情况。我们将SharedHap应用于模拟和真实的谱系数据集以阐述该方法。
SharedHap成功地呈现了在模拟和真实数据集中对连锁信号有贡献的单倍型共享模式。通过这些可视化结果，我们还能够找到用于测序研究的理想个体集。
我们使用SharedHap软件包计算出的新指标提供了有关感兴趣个体间单倍型共享模式的有用信息。SharedHap比例的可视化在谱系研究中提供了有用信息，有助于更好地选择用于进一步测序研究的候选个体。
