Pangenome Graphs.
Pangenome Graphs.
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DOI：
10.1146/annurev-genom-120219-080406
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发表时间：
2020-08-31
影响因子：
8.7
通讯作者：
Garrison E
中科院分区：
文献类型：
--
作者：
Eizenga JM;Novak AM;Sibbesen JA;Heumos S;Ghaffaari A;Hickey G;Chang X;Seaman JD;Rounthwaite R;Ebler J;Rautiainen M;Garg S;Paten B;Marschall T;Sirén J;Garrison E
低成本的全基因组组装使得能够收集许多生物体的单倍型分辨泛基因组。反过来，这一技术变革也鼓励开发能够精确处理大量相关基因组集合中描述的序列和变异的方法。这些方法通常使用泛基因组的图形模型来支持序列比对、可视化、功能基因组学和关联研究的算法。泛基因组为这些方法提供的额外信息使它们能够在各种生物信息学任务上实现上级性能，包括读段比对、变异识别和基因分型。泛基因组图将成为基因组学中无处不在的工具。虽然目前还不清楚它们是否会取代线性参考基因组，但它们和谐地关联多个序列和坐标系统的能力将使它们有用，无论未来哪种泛基因组模型变得最常见。
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 if 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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影响因子：
16.6
作者：
Bradley P;Gordon NC;Walker TM;Dunn L;Heys S;Huang B;Earle S;Pankhurst LJ;Anson L;de Cesare M;Piazza P;Votintseva AA;Golubchik T;Wilson DJ;Wyllie DH;Diel R;Niemann S;Feuerriegel S;Kohl TA;Ismail N;Omar SV;Smith EG;Buck D;McVean G;Walker AS;Peto TE;Crook DW;Iqbal Z
通讯作者：
Iqbal Z
影响因子：
5.8
作者：
Baier, Uwe;Beller, Timo;Ohlebusch, Enno
通讯作者：
Ohlebusch, Enno
影响因子：
3
作者：
Sheikhizadeh Anari S;de Ridder D;Schranz ME;Smit S
通讯作者：
Smit S
影响因子：
5.8
作者：
Beyer, Wolfgang;Novak, Adam M.;Zerbino, Daniel R.
通讯作者：
Zerbino, Daniel R.
影响因子：
1.1
作者：
Bernardini, Giulia;Pisanti, Nadia;Rosone, Giovanna
通讯作者：
Rosone, Giovanna