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.

PMID: 34252949
PMCID: PMC8336445
Funding: - St. Petersburg State University: 73023672