2025/03/02 by Nina Marthe, Matthias Zytnicki, François Sabot · 2 voices
Biochemistry, Genetics and Molecular Biology · Computer Science · #Biomedical Text Mining and Ontologies #Genomics and Phylogenetic Studies #Natural Language Processing Techniques
paper · pdf · doi:10.1101/2025.02.26.640337
openalex publication_date 2025/03/02 · openalex created_date 2025/03/03 · openalex updated_date 2026/07/14
Abstract The increasing availability of genome sequences has highlighted the limitations of using a single reference genome to represent the diversity within a species. Pangenomes, encompassing the genomic information from multiple genomes, thus offer a more comprehensive representation of intraspecific diversity. However, pangenomes in form of a variation graph often lack annotation information and tools for, which limits their utility for downstream analyses. We introduce here GrAnnoT, a tool designed for an efficient and reliable integration of annotation information in such variation graphs. It projects existing annotations from a source genome to the variation graph and subsequently to other embedded genomes. GrAnnoT was benchmarked against state-of-the-art tools on pangenome variation graphs and linear genomes from Asian rice, and tested on human and E. coli data. The results demonstrate that GrAnnoT is consensual, conservative, and fast. It provides informative outputs, such as presence-absence matrices for genes, and alignments of transferred features between source and target genomes, helping in the study of genomic variations and evolution. GrAnnoT’s robustness and replicability across different species make it a valuable tool for enhancing pangenome analyses. GrAnnoT is available under the GNU GPLv3 licence at https://forge.ird.fr/diade/dynadiv/grannot .