Pangenome Graphs。

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY Annual review of genomics and human genetics Pub Date : 2020-08-31 Epub Date: 2020-05-26 DOI:10.1146/annurev-genom-120219-080406
Jordan M Eizenga, Adam M Novak, Jonas A Sibbesen, Simon Heumos, Ali Ghaffaari, Glenn Hickey, Xian Chang, Josiah D Seaman, Robin Rounthwaite, Jana Ebler, Mikko Rautiainen, Shilpa Garg, Benedict Paten, Tobias Marschall, Jouni Sirén, Erik Garrison
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引用次数: 92

摘要

低成本的全基因组组装使许多生物的单倍型解析泛基因组的收集成为可能。反过来,这种技术变革鼓励了能够精确处理大量相关基因组中所描述的序列和变异的方法的发展。这些方法通常使用泛基因组的图形模型来支持序列比对、可视化、功能基因组学和关联研究的算法。泛基因组为这些方法提供的额外信息使它们能够在各种生物信息学任务中实现卓越的性能,包括读取比对,变体调用和基因分型。泛基因组图谱将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,但它们协调多个序列和坐标系统的能力将使它们有用,无论未来哪种全基因组模型将成为最常见的。
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Pangenome Graphs.

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.

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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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