| Literature DB >> 32453966 |
Jordan M Eizenga1, Adam M Novak1, Jonas A Sibbesen1, Simon Heumos2, Ali Ghaffaari3,4,5, Glenn Hickey1, Xian Chang1, Josiah D Seaman6,7, Robin Rounthwaite1, Jana Ebler3,4,5, Mikko Rautiainen3,4,5, Shilpa Garg8,9, Benedict Paten1, Tobias Marschall3,4, Jouni Sirén1, Erik Garrison1.
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.Entities:
Keywords: genome graph; pangenome; variation graph
Mesh:
Year: 2020 PMID: 32453966 PMCID: PMC8006571 DOI: 10.1146/annurev-genom-120219-080406
Source DB: PubMed Journal: Annu Rev Genomics Hum Genet ISSN: 1527-8204 Impact factor: 8.929