학술논문

Galba: genome annotation with miniprot and AUGUSTUS
Document Type
article
Source
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-21 (2023)
Subject
Gene prediction
Protein coding gene
Miniprot
AUGUSTUS
Computer applications to medicine. Medical informatics
R858-859.7
Biology (General)
QH301-705.5
Language
English
ISSN
1471-2105
Abstract
Abstract Background The Earth Biogenome Project has rapidly increased the number of available eukaryotic genomes, but most released genomes continue to lack annotation of protein-coding genes. In addition, no transcriptome data is available for some genomes. Results Various gene annotation tools have been developed but each has its limitations. Here, we introduce GALBA, a fully automated pipeline that utilizes miniprot, a rapid protein-to-genome aligner, in combination with AUGUSTUS to predict genes with high accuracy. Accuracy results indicate that GALBA is particularly strong in the annotation of large vertebrate genomes. We also present use cases in insects, vertebrates, and a land plant. GALBA is fully open source and available as a docker image for easy execution with Singularity in high-performance computing environments. Conclusions Our pipeline addresses the critical need for accurate gene annotation in newly sequenced genomes, and we believe that GALBA will greatly facilitate genome annotation for diverse organisms.