将基因组结构变异表示和分解为序列图上的平衡整数流
Representing and decomposing genomic structural variants as balanced integer flows on sequence graphs
摘要：
对基因组变异的研究为了解突变的功能作用提供了关键的见解。主要地，研究集中在单核苷酸变体（SNV），其相对容易检测并且可以用丰富的数学模型描述。然而，人们观察到基因组具有高度可塑性，整个区域都可以被移动、移除或批量复制。这些结构变异体（SV）已被证明对表型有显着影响，但其研究一直受到基础模型组合复杂性的阻碍。我们在这里描述了一个一般模型的结构变化，包括平衡重排和任意拷贝数的变异（CNV）。在这个模型中，我们表明，解释任何两个基因组之间的结构差异的可能的进化历史的空间可以遍历采样。
英文摘要：
The study of genomic variation has provided key insights into the functional role of mutations. Predominantly, studies have focused on single nucleotide variants (SNV), which are relatively easy to detect and can be described with rich mathematical models. However, it has been observed that genomes are highly plastic, and that whole regions can be moved, removed or duplicated in bulk. These structural variants (SV) have been shown to have significant impact on the phenotype, but their study has been held back by the combinatorial complexity of the underlying models. We describe here a general model of structural variation that encompasses both balanced rearrangements and arbitrary copy-numbers variants (CNV). In this model, we show that the space of possible evolutionary histories that explain the structural differences between any two genomes can be sampled ergodically.
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