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
中科院分区:
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
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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