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HiCAT: a tool for automatic annotation of centromere structure

  • Xi'an Jiaotong University
  • The First Affiliated Hospital of Xi’an Jiaotong University
  • Leiden University

Research output: Contribution to journalArticlepeer-review

31 Scopus citations

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.

Original languageEnglish
Article number58
JournalGenome Biology
Volume24
Issue number1
DOIs
StatePublished - Dec 2023

Keywords

  • Centromere annotation
  • Gapless genomes
  • HiCAT
  • Long-read sequencing technologies

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