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Annual Review of Genomics and Human Genetics

Volume 21, 2020

Pangenome Graphs

Abstract

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.

Keyword(s): genome graph, pangenome, variation graph
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/content/journals/10.1146/annurev-genom-120219-080406
2020-08-31
2024-04-23
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/content/journals/10.1146/annurev-genom-120219-080406
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Pangenome Graphs
Annual Review of Genomics and Human Genetics 21, 139 (2020); https://doi.org/10.1146/annurev-genom-120219-080406
/content/journals/10.1146/annurev-genom-120219-080406
/content/journals/10.1146/annurev-genom-120219-080406
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