Identification and annotation of centromeric hypomethylated regions with CDR-Finder

Bioinformatics. 2024 Nov 28;40(12):btae733. doi: 10.1093/bioinformatics/btae733.

Abstract

Motivation: Centromeres are chromosomal regions historically understudied with sequencing technologies due to their repetitive nature and short-read mapping limitations. However, recent improvements in long-read sequencing allow for the investigation of complex regions of the genome at the sequence and epigenetic levels.

Results: Here, we present Centromere Dip Region (CDR)-Finder: a tool to identify regions of hypomethylation within the centromeres of high-quality, contiguous genome assemblies. These regions are typically associated with a unique type of chromatin containing the histone H3 variant CENP-A, which marks the location of the kinetochore. CDR-Finder identifies the CDRs in large and short centromeres and generates a BED file indicating the location of the CDRs within the centromere. It also outputs a plot for visualization, validation, and downstream analysis.

Availability and implementation: CDR-Finder is available at https://github.com/EichlerLab/CDR-Finder.

MeSH terms

  • Centromere Protein A / chemistry
  • Centromere Protein A / genetics
  • Centromere Protein A / metabolism
  • Centromere*
  • DNA Methylation*
  • Humans
  • Molecular Sequence Annotation / methods
  • Sequence Analysis, DNA / methods
  • Software*

Substances

  • Centromere Protein A