Department of Electrical Engineering (ESAT/SCD), University of Leuven, Kasteelpark Arenberg 10, Box 2446, 3001 Leuven, Belgium.
Nucleic Acids Res. 2013 Jun;41(11):e118. doi: 10.1093/nar/gkt254. Epub 2013 Apr 19.
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 http://homes.esat.kuleuven.be/~bioiuser/meander.
下一代测序方法在基因组研究中的引入使得研究从以基因为中心的方法转变为全基因组视角成为可能。尽管检测单核苷酸多态性的方法和工具越来越成熟,但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的序列与参考基因组进行比较;因此,直接比较多个个体仍然是一个挑战。因此,需要实现有效的方法来探索和可视化 SV,并直接比较两个或更多个体。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 Hilbert 曲线来基于读取深度和双端信息探索 SV。一个名为 Meander 的交互式开源 Java 应用程序实现了所提出的方法,并且使用两个案例演示了其功能。使用 Meander,用户可以在不同分辨率级别探索变异,并且可以同时针对一个公共参考比较多达四个不同的个体。该应用程序是使用 Java 版本 1.6 和 Processing.org 开发的,可以在任何平台上运行。它可以在 http://homes.esat.kuleuven.be/~bioiuser/meander 找到。