Identification and annotation of centromeric hypomethylated regions with CDR-Finder

利用 CDR-Finder 识别和注释着丝粒低甲基化区域

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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.

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