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Pangenome Graphs.

Resource type
Journal article
Creator (person)
Eizenga, Jordan M.
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Novak, Adam M.
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Sibbesen, Jonas A.
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Heumos, Simon
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Ghaffaari, Ali
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Hickey, Glenn
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Chang, Xian
Seaman, Josiah D.
Rounthwaite, Robin
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Ebler, Jana
Rautiainen, Mikko
Garg, Shilpa
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Paten, Benedict
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Marschall, Tobias
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Sirén, Jouni
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Garrison, Erik
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Date published
August 31, 2020
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.
Funder
Funder nameAwards
National Institutes of Health. United States
Award no. U54HG007990. - Award no. U01HL137183. - Award no. 2U41HG007234.
W. M. Keck Foundation, United States
DT06172015
Bundesministerium für Bildung, Wissenschaft, Forschung und Technologie, Germany
BMBF 031L0184
Carlsbergfondet, Denmark
Central Innovation Program (ZIM) for SMEs
Bundesministerium für Wirtschaft und Energie, Germany
Biotechnology and Biological Sciences Research Council, United Kingdom
BB/S004661/1
Journal title
Annual Review of Genomics and Human Genetics
Volume
21
Publisher
Annual Reviews Inc.
Place of publication
Palo Alto, Ca., US
ISSN
1527-8204
eISSN
1545-293X
Official URL
https://doi.org/10.1146/annurev-genom-120219-080406
Rights statement
In Copyright
DOI
10.1146/annurev-genom-120219-080406
Keywords
Genome graph
Pangenome
Variation graph
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