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HiCAT: a tool for automatic annotation of centromere structure.


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.

SUBMITTER: Gao S 

PROVIDER: S-EPMC10053651 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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HiCAT: a tool for automatic annotation of centromere structure.

Gao Shenghan S   Yang Xiaofei X   Guo Hongtao H   Zhao Xixi X   Wang Bo B   Ye Kai K  

Genome biology 20230328 1


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 thalian  ...[more]

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