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

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...

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Detalles Bibliográficos
Autores principales: Contreras-Moreira, Bruno, Saraf, Shradha, Naamati, Guy, Casas, Ana M., Amberkar, Sandeep S., Flicek, Paul, Jones, Andrew R., Dyer, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10552430/
https://www.ncbi.nlm.nih.gov/pubmed/37798615
http://dx.doi.org/10.1186/s13059-023-03071-z
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13059-023-03071-z.