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GenomicsBioinformatics
Peer-reviewed journal article

Identification and annotation of centromeric hypomethylated regions with Centromere Dip Region (CDR)-Finder

Francesco Kumara MastrorosaiD, Keisuke K. OshimaiD, Allison N. RozanskiiD, William T. HarveyiD, Evan E. EichleriD, Glennis A. LogsdoniD

Abstract

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 allowed 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.

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02 /Specification & Classification

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