The recent advances in sequencing technologies enable the assembly of individual genomes to the quality of the reference genome. How to integrate multiple genomes from the same species and make the integrated representation accessible to biologists remains an open challenge. Here, we propose a graph-based data model and associated formats to represent multiple genomes while preserving the coordinate of the linear reference genome. We implement our ideas in the minigraph toolkit and demonstrate that we can efficiently construct a pangenome graph and compactly encode tens of thousands of structural variants missing from the current reference genome.

中文翻译：

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带小图的参考全基因组图的设计和构建


测序技术的最新进展使得个体基因组的组装能够达到参考基因组的质量。如何整合同一物种的多个基因组并使生物学家能够获取整合的表示仍然是一个开放的挑战。在这里，我们提出了一种基于图的数据模型和相关格式来表示多个基因组，同时保留线性参考基因组的坐标。我们在微型图工具包中实现了我们的想法，并证明我们可以有效地构建泛基因组图，并紧凑地编码当前参考基因组中缺失的数万个结构变异。