Identification and annotation of centromeric hypomethylated regions with CDR-Finder

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 epigenet...

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Veröffentlicht in:Bioinformatics (Oxford, England) England), 2024-11, Vol.40 (12)
Hauptverfasser: Mastrorosa, Francesco Kumara, Oshima, Keisuke K, Rozanski, Allison N, Harvey, William T, Eichler, Evan E, Logsdon, Glennis A
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Sprache:eng
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Zusammenfassung: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. 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. CDR-Finder is available at https://github.com/EichlerLab/CDR-Finder.
ISSN:1367-4811
1367-4803
1367-4811
DOI:10.1093/bioinformatics/btae733