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Meander: visually exploring the structural variome using space-filling curves

机译:曲折:使用空间填充曲线直观地探索结构变体

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摘要

The introduction of next generation sequencing methods in genome studies has made it possible to shift research from a gene-centric approach to a genome wide view. Although methods and tools to detect single nucleotide polymorphisms are becoming more mature, methods to identify and visualize structural variation (SV) are still in their infancy. Most genome browsers can only compare a given sequence to a reference genome; therefore, direct comparison of multiple individuals still remains a challenge. Therefore, the implementation of efficient approaches to explore and visualize SVs and directly compare two or more individuals is desirable. In this article, we present a visualization approach that uses space-filling Hilbert curves to explore SVs based on both read-depth and pair-end information. An interactive open-source Java application, called Meander, implements the proposed methodology, and its functionality is demonstrated using two cases. With Meander, users can explore variations at different levels of resolution and simultaneously compare up to four different individuals against a common reference. The application was developed using Java version 1.6 and Processing.org and can be run on any platform. It can be found at .
机译:下一代测序方法在基因组研究中的引入使将研究从以基因为中心的方法转移到全基因组视野成为可能。尽管检测单核苷酸多态性的方法和工具变得越来越成熟,但是识别和可视化结构变异(SV)的方法仍处于起步阶段。大多数基因组浏览器只能将给定序列与参考基因组进行比较。因此,直接比较多个人仍然是一个挑战。因此,需要一种有效的方法来探索和可视化SV并直接比较两个或多个个体。在本文中,我们提出了一种可视化方法,该方法使用空间填充的希尔伯特曲线基于读取深度和对端信息来探索SV。一个名为Meander的交互式开源Java应用程序实现了所建议的方法,并使用两种情况演示了其功能。使用Meander,用户可以探索不同分辨率级别的变化,并同时将多达四个不同的个人与一个共同的参考进行比较。该应用程序是使用Java 1.6版和Processing.org开发的,可以在任何平台上运行。可以在找到。

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