期刊
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020
卷 21, 期 -, 页码 139-162出版社
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-120219-080406
关键词
pangenome; genome graph; variation graph
资金
- National Institutes of Health [U54HG007990, U01HL137183, 2U41HG007234]
- W.M. Keck Foundation [DT06172015]
- German Federal Ministry for Research and Education [BMBF 031L0184]
- Carlsberg Foundation
- Central Innovation Program (ZIM) for SMEs of the Federal Ministry for Economic Affairs and Energy of Germany
- Biotechnology and Biological Sciences Research Council [BB/S004661/1]
- BBSRC [BB/S004661/1] Funding Source: UKRI
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.
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