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Pangenome Graphs

delete2020-08-31
delete133
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OA
AI
J
Jordan M. Eizenga
N
Novak, Adam M.
J
Jonas A. Sibbesen
H
Heumos, Simon
A
Ali Ghaffaari
G
Glenn Hickey
X
Xian Chang
J
Josiah Seaman
J
Jana Ebler
M
Mikko Rautiainen
S
Shilpa Garg
B
Benedict Paten
T
Tobias Marschall
J
Jouni Sirén
E
Erik Garrison *
DOI:10.1146/annurev-genom-120219-080406delete
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Abstract

Abstract

En 中文
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 linear reference 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.
Keywords:
pangenome
genome graph
variation graph
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eberhard karls university of tubingen
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university of california santa cruz
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University of California System
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