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

Bruno Contreras-MoreiraShradha SarafGuy NaamatiAna M CasasSandeep S AmberkarPaul FlicekAndrew R JonesSarah Dyer
Published in: Genome biology (2023)
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 .
Keyphrases
  • genome wide
  • genome wide identification
  • copy number
  • dna methylation
  • randomized controlled trial
  • genome wide analysis
  • transcription factor
  • climate change
  • cell wall
  • risk assessment
  • big data
  • human health