构建泛基因组图谱

Erik Garrison, Andrea Guarracino, Simon Heumos, Flavia Villani, Zhigui Bao, Lorenzo Tattini, Jörg Hagmann, Sebastian Vorbrugg, Santiago Marco-Sola, Christian Kubica, David G Ashbrook, Kaisa Thorell, Rachel L Rusholme-Pilcher, Gianni Liti, Emilio Rudbeck, Sven Nahnsen, Zuyu Yang, Moses Njagi Mwaniki, Franklin L Nobrega, Yi Wu, Hao Chen, Joep de Ligt, Peter H Sudmant, Nicole Soranzo, Vincenza Colonna, Robert W Williams, Pjotr Prins
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引用次数: 0

摘要

泛基因组图谱可以代表多个基因组之间的所有变异,但由于参考文献指导的方法,现有的构建方法存在偏差。为此,我们开发了泛基因组图构建器(PanGenome Graph Builder,PGGB),这是一种用于构建无偏见泛基因组图的无参照管道。PGGB 使用全对全基因组比对和学习的图嵌入来构建并迭代完善一个模型,在这个模型中,我们可以识别变异、测量保守性、检测重组事件并推断系统发育关系。
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Building pangenome graphs.

Pangenome graphs can represent all variation between multiple reference genomes, but current approaches to build them exclude complex sequences or are based upon a single reference. In response, we developed the PanGenome Graph Builder (PGGB), a pipeline for constructing pangenome graphs without bias or exclusion. PGGB uses all-to-all alignments to build a variation graph in which we can identify variation, measure conservation, detect recombination events, and infer phylogenetic relationships.

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