Affordable Access

Access to the full text

Pangenome Graphs

Authors
  • Eizenga, Jordan M.
  • Novak, Adam M.
  • Sibbesen, Jonas A.
  • Heumos, Simon
  • Ghaffaari, Ali
  • Hickey, Glenn
  • Chang, Xian
  • Seaman, Josiah D.
  • Rounthwaite, Robin
  • Ebler, Jana
  • Rautiainen, Mikko
  • Garg, Shilpa
  • Paten, Benedict
  • Marschall, Tobias
  • Sirén, Jouni
  • Garrison, Erik
Type
Published Article
Journal
Annual Review of Genomics and Human Genetics
Publisher
Annual Reviews
Publication Date
Aug 31, 2020
Volume
21
Pages
139–162
Identifiers
DOI: 10.1146/annurev-genom-120219-080406
Source
Annual Reviews
Keywords
License
Yellow

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.

Report this publication

Statistics

Seen <100 times