CentromereArchitect
CentromereArchitect annotates and decomposes centromeric assemblies to identify human monomers and high-order repeats (HORs) for analysis of centromere architecture and evolution.
Key Features:
- Centromere annotation: Annotates newly assembled centromeric regions to identify complete sets of human monomers and high-order repeats (HORs) with explicit algorithmic definitions.
- Support for long-read assemblies: Processes assemblies derived from long-read sequencing technologies, including assemblies generated by the Telomere-to-Telomere (T2T) consortium, to enable comprehensive centromere annotation.
- Hybrid monomer discovery: Detects and reports hybrid monomers observed in complete human genome assemblies.
- Decomposition algorithms: Decomposes complex centromeric assemblies into constituent monomers and HORs using specialized bioinformatics algorithms.
- Enables comparative and population analyses: Produces annotations suitable for evolutionary studies and population- or individual-level investigations of centromere variation.
Scientific Applications:
- Human centromere architecture: Characterize the organization of monomers and HORs in human centromeric regions.
- Centromere evolution: Identify hybrid monomers and other features that inform studies of centromere evolutionary dynamics.
- Population and biomedical studies: Compare centromeric variation across individuals to support genotype–phenotype and personalized biomedical research.
- Comparative genomics: Compare centromeric architectures across species to investigate evolutionary conservation and divergence.
Methodology:
Applies specialized bioinformatics algorithms to decompose centromeric assemblies into constituent monomers and high-order repeats (HORs).
Topics
Details
- License:
- GPL-2.0
- Cost:
- Free of charge
- Tool Type:
- command-line tool
- Programming Languages:
- C++, Python, C
- Added:
- 11/20/2021
- Last Updated:
- 11/20/2021
Operations
Publications
Dvorkina T, Kunyavskaya O, Bzikadze AV, Alexandrov I, Pevzner PA. CentromereArchitect: inference and analysis of the architecture of centromeres. Bioinformatics. 2021;37(Supplement_1):i196-i204. doi:10.1093/bioinformatics/btab265. PMID:34252949. PMCID:PMC8336445.