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HiCAT: a tool for automatic annotation of centromere structure

Shenghan Gao, Xiaofei Yang, Hongtao Guo, Xixi Zhao, Bo Wang, Kai Ye

2023Genome biology40 citationsDOIOpen Access PDF

Abstract

Significant improvements in long-read sequencing technologies have unlocked complex genomic areas, such as centromeres, in the genome and introduced the centromere annotation problem. Currently, centromeres are annotated in a semi-manual way. Here, we propose HiCAT, a generalizable automatic centromere annotation tool, based on hierarchical tandem repeat mining to facilitate decoding of centromere architecture. We apply HiCAT to simulated datasets, human CHM13-T2T and gapless Arabidopsis thaliana genomes. Our results are generally consistent with previous inferences but also greatly improve annotation continuity and reveal additional fine structures, demonstrating HiCAT's performance and general applicability.

Topics & Concepts

BiologyCentromereAnnotationHuman geneticsGenome BiologyComputational biologyEvolutionary biologyGeneticsGenomicsGenomeChromosomeGeneChromosomal and Genetic VariationsGenomics and Phylogenetic StudiesGlycosylation and Glycoproteins Research
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