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Superbubbles Ultrabubbles and Cacti

机译:超级气泡超气泡和仙人掌

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摘要

>A superbubble is a type of directed acyclic subgraph with single distinct source and sink vertices. In genome assembly and genetics, the possible paths through a superbubble can be considered to represent the set of possible sequences at a location in a genome. Bidirected and biedged graphs are a generalization of digraphs that are increasingly being used to more fully represent genome assembly and variation problems. In this study, we define snarls and ultrabubbles, generalizations of superbubbles for bidirected and biedged graphs, and give an efficient algorithm for the detection of these more general structures. Key to this algorithm is the cactus graph, which, we show, encodes the nested decomposition of a graph into snarls and ultrabubbles within its structure. We propose and demonstrate empirically that this decomposition on bidirected and biedged graphs solves a fundamental problem by defining genetic sites for any collection of genomic variations, including complex structural variations, without need for any single reference genome coordinate system. Further, the nesting of the decomposition gives a natural way to describe and model variations contained within large variations, a case not currently dealt with by existing formats [e.g., variant cell format (VCF)].
机译:>超级气泡是一种有向无环子图,具有唯一的源顶点和宿顶点。在基因组组装和遗传学中,可以认为通过超泡的可能路径代表了基因组中某个位置的可能序列集。双向图和双向图是对有向图的概括,越来越多地被用于更全面地表示基因组装配和变异问题。在这项研究中,我们定义了咆哮和超气泡,针对双向图和有边界图的超气泡的推广,并给出了检测这些更通用结构的有效算法。该算法的关键是仙人掌图,我们将其显示为将图的嵌套分解编码为结构内的咆哮和超气泡。我们提出并凭经验证明,在双向图和有边界图上的这种分解通过为任何基因组变异集合(包括复杂的结构变异)定义遗传位点而解决了一个基本问题,而无需任何单个参考基因组坐标系。此外,分解的嵌套为描述和建模包含在大变化中的变化提供了一种自然的方式,这种情况目前尚无法通过现有格式(例如,变体单元格格式(VCF))处理。

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