参考泛基因组图的设计与构造
The design and construction of reference pangenome graphs
摘要：
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质量。如何整合来自同一物种的多个基因组，并使生物学家可以访问集成表示仍然是一个开放的挑战。在这里，我们提出了一个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minigraph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，并对当前参考基因组中缺失的数万个结构变体进行编码。
英文摘要：
The recent advances in sequencing technologies enables the assembly of individual genomes to the reference quality. How to integrate multiple genomes from the same species and to make the integrated representation accessible to biologists remain 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 implemented 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.
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