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

Contreras-Moreira B, Saraf S, Naamati G, Casas AM, Amberkar SS, Flicek P, Jones AR, Dyer S

Published: 5 October 2023 in Genome Biology
DOI: 10.1186/s13059-023-03071-z

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.

European Molecular Biology Laboratory no grant ID listed
National Science Foundation - BBSRC BB/T015608/1
National Science Foundation - BBSRC BB/T015691/1
Spanish National Research Counsil (CSIC) FAS2022_052
Wellcome Trust WT222155/Z/20/Z