GET_PANGENES: calling pangenes from plant genome alignments confirms presence-absence variation.

GET_PANGENES: calling pangenes from plant genome alignments confirms presence-absence variation.
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DOI:
10.1186/s13059-023-03071-z
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发表时间:
2023-10-05
期刊:
影响因子:
12.3
通讯作者:
Dyer, Sarah
Dyer, Sarah
中科院分区:
生物学1区
文献类型:
--
作者:
Contreras-Moreira, Bruno;Saraf, Shradha;Naamati, Guy;Casas, Ana M.;Amberkar, Sandeep S.;Flicek, Paul;Jones, Andrew R.;Dyer, Sarah

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由单个栽培品种组装而成的作物泛基因组有望轻松获得保守基因,但基因组内容的变异性和不一致的标识符阻碍了它们的探索。为了解决这个问题,我们定义了泛基因,它总结了一个物种的编码潜力,并链接回原始注释。协议get_pangenes执行全基因组比对(WGA)以基于坐标重叠调用同线基因模型。一个具有小型和大型植物基因组的基准表明,泛基因概括了基于同源性的同源性,并产生了完整的软核基因集。此外,WGA支持提升并帮助确认基因存在-不存在变异。源代码和文档:https://github.com/Ensembl/plant-scripts。在线版本包含补充材料,可通过10.1186/s13059-023-03071-z获得。
Crop pangenomes made from individual cultivar assemblies promise easy access to conserved genes, but genome content variability and inconsistent identifiers hamper their exploration. To address this, we define pangenes, which summarize a species coding potential and link back to original annotations. The protocol get_pangenes performs whole genome alignments (WGA) to call syntenic gene models based on coordinate overlaps. A benchmark with small and large plant genomes shows that pangenes recapitulate phylogeny-based orthologies and produce complete soft-core gene sets. Moreover, WGAs support lift-over and help confirm gene presence-absence variation. Source code and documentation: https://github.com/Ensembl/plant-scripts. The online version contains supplementary material available at 10.1186/s13059-023-03071-z.
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