Diogo Pratas

Universidade de Aveiro
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Portugal

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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

PORTUGAL

Miguel Semedo

University of Porto

PORTUGAL

M. Fátima Carvalho

Invited Assistant Professor

ICBAS, University of Porto

PORTUGAL

Sérgio F. Sousa

Universidade do Porto Faculdade de Medicina

PORTUGAL

Antti Sajantila

University of Helsinki

FINLAND

Sérgio Matos

Assistant Professor

Universidade de Aveiro

PORTUGAL

Catarina Magalhães

University of Porto

PORTUGAL

Tânia S. Caetano

Universidade de Aveiro

PORTUGAL

Mari Toppinen

University of Helsinki

FINLAND

Maria Fernanda Perdomo

University of Helsinki

FINLAND

Ushanandini Mohanraj

University of Helsinki

FINLAND

Lari Pyöriä

University of Helsinki

FINLAND

Manuel Simões

Associate Professor with Habilitation

Universidade do Porto Faculdade de Engenharia

PORTUGAL

Armando J. Pinho

Universidade de Aveiro

PORTUGAL
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