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Pangenome Graphs.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2020-09-01 , DOI: 10.1146/annurev-genom-120219-080406
Jordan M Eizenga 1 , Adam M Novak 1 , Jonas A Sibbesen 1 , Simon Heumos 2 , Ali Ghaffaari 3, 4, 5 , Glenn Hickey 1 , Xian Chang 1 , Josiah D Seaman 6, 7 , Robin Rounthwaite 1 , Jana Ebler 3, 4, 5 , Mikko Rautiainen 3, 4, 5 , Shilpa Garg 8, 9 , Benedict Paten 1 , Tobias Marschall 3, 4 , Jouni Sirén 1 , Erik Garrison 1
Affiliation  

Low-cost whole-genome assembly has enabled the collection of haplotype-resolved pangenomes for numerous organisms. In turn, this technological change is encouraging the development of methods that can precisely address the sequence and variation described in large collections of related genomes. These approaches often use graphical models of the pangenome to support algorithms for sequence alignment, visualization, functional genomics, and association studies. The additional information provided to these methods by the pangenome allows them to achieve superior performance on a variety of bioinformatic tasks, including read alignment, variant calling, and genotyping. Pangenome graphs stand to become a ubiquitous tool in genomics. Although it is unclear whether they will replace linearreference genomes, their ability to harmoniously relate multiple sequence and coordinate systems will make them useful irrespective of which pangenomic models become most common in the future.

中文翻译:


Pangenome图。

低成本的全基因组组装已使众多生物能够收集单倍型解析的全基因组。反过来,这种技术变化也鼓励开发能够精确解决相关基因组大集合中描述的序列和变异的方法。这些方法通常使用全基因组的图形模型来支持用于序列比对,可视化,功能基因组学和关联研究的算法。全景基因组为这些方法提供的其他信息使它们能够在各种生物信息学任务(包括阅读比对,变异调用和基因分型)上实现卓越的性能。泛基因组图已成为基因组学中无处不在的工具。尽管目前尚不清楚它们是否会取代线性参考基因组,

更新日期:2020-09-03
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