Diogo Pratas
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Articles (11)
AlcoR: alignment-free simulation, mapping, and visualization of low-complexity regions in biological data
Background Low-complexity data analysis is the area that addresses the search and quantification of regions in sequences of elements that contain low-complexity or repetitive elements. For example, these can be tandem repeats, inverted repeats, homopolymer tails, GC-biased regions, similar genes, and hairpins, among many others. Identifying these regions is crucial because of their association with regulatory and structural characteristics. Moreover, their identification provides positional and quantity information where standard assembly methodologies face significant difficulties because of substantial higher depth coverage (mountains), ambiguous read mapping, or where sequencing or reconstruction defects may occur. However, the capability to distinguish low-complexity regions (LCRs) in genomic and proteomic sequences is a challenge that depends on the model’s ability to find them automatically. Low-complexity patterns can be implicit through specific or combined sources, such as algorithmic or probabilistic, and recurring to different spatial distances—namely, local, medium, or distant associations. Findings This article addresses the challenge of automatically modeling and distinguishing LCRs, providing a new method and tool (AlcoR) for efficient and accurate segmentation and visualization of these regions in genomic and proteomic sequences. The method enables the use of models with different memories, providing the ability to distinguish local from distant low-complexity patterns. The method is reference and alignment free, providing additional methodologies for testing, including a highly flexible simulation method for generating biological sequences (DNA or protein) with different complexity levels, sequence masking, and a visualization tool for automatic computation of the LCR maps into an ideogram style. We provide illustrative demonstrations using synthetic, nearly synthetic, and natural sequences showing the high efficiency and accuracy of AlcoR. As large-scale results, we use AlcoR to unprecedentedly provide a whole-chromosome low-complexity map of a recent complete human genome and the haplotype-resolved chromosome pairs of a heterozygous diploid African cassava cultivar. Conclusions The AlcoR method provides the ability of fast sequence characterization through data complexity analysis, ideally for scenarios entangling the presence of new or unknown sequences. AlcoR is implemented in C language using multithreading to increase the computational speed, is flexible for multiple applications, and does not contain external dependencies. The tool accepts any sequence in FASTA format. The source code is freely provided at https://github.com/cobilab/alcor.
Year:
2022
Collaborators (14)
Filipe Pereira
Assistant Professor
Universidade de Trás-os-Montes e Alto Douro
Miguel Semedo
University of Porto
M. Fátima Carvalho
Invited Assistant Professor
ICBAS, University of Porto
Sérgio F. Sousa
Universidade do Porto Faculdade de Medicina
Antti Sajantila
University of Helsinki
Sérgio Matos
Assistant Professor
Universidade de Aveiro
Catarina Magalhães
University of Porto
Tânia S. Caetano
Universidade de Aveiro
Mari Toppinen
University of Helsinki
Maria Fernanda Perdomo
University of Helsinki
Ushanandini Mohanraj
University of Helsinki
Lari Pyöriä
University of Helsinki
Manuel Simões
Associate Professor with Habilitation
Universidade do Porto Faculdade de Engenharia
Armando J. Pinho
Universidade de Aveiro

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