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

Autor: Bruno Contreras-Moreira, Shradha Saraf, Guy Naamati, Ana M. Casas, Sandeep S. Amberkar, Paul Flicek, Andrew R. Jones, Sarah Dyer
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Genome Biology, Vol 24, Iss 1, Pp 1-18 (2023)
Druh dokumentu: article
ISSN: 1474-760X
DOI: 10.1186/s13059-023-03071-z
Popis: Abstract 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 .
Databáze: Directory of Open Access Journals