Genomics Institute, University of California, Santa Cruz, California 95064, USA; email:
Quantitative Biology Center, University of Tübingen, 72076 Tübingen, Germany.
Annu Rev Genomics Hum Genet. 2020 Aug 31;21:139-162. doi: 10.1146/annurev-genom-120219-080406. Epub 2020 May 26.
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.
低成本的全基因组组装使得对许多生物的单倍型解析泛基因组收集成为可能。反过来,这种技术变革正在鼓励开发能够精确解决大量相关基因组中描述的序列和变异的方法。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,包括读取对齐、变异调用和基因分型。泛基因组图有望成为基因组学中无处不在的工具。尽管尚不清楚它们是否会取代线性参考基因组,但它们能够和谐地关联多个序列和坐标系统,这使得它们无论未来哪种泛基因组模型变得最为常见,都将非常有用。