Search results for "Alignment-free"

The colored longest common prefix array computed via sequential scans

2018

Due to the increased availability of large datasets of biological sequences, the tools for sequence comparison are now relying on efficient alignment-free approaches to a greater extent. Most of the alignment-free approaches require the computation of statistics of the sequences in the dataset. Such computations become impractical in internal memory when very large collections of long sequences are considered. In this paper, we present a new conceptual data structure, the colored longest common prefix array (cLCP), that allows to efficiently tackle several problems with an alignment-free approach. In fact, we show that such a data structure can be computed via sequential scans in semi-exter…

An effective extension of the applicability of alignment-free biological sequence comparison algorithms with Hadoop

2016

Alignment-free methods are one of the mainstays of biological sequence comparison, i.e., the assessment of how similar two biological sequences are to each other, a fundamental and routine task in computational biology and bioinformatics. They have gained popularity since, even on standard desktop machines, they are faster than methods based on alignments. However, with the advent of Next-Generation Sequencing Technologies, datasets whose size, i.e., number of sequences and their total length, is a challenge to the execution of alignment-free methods on those standard machines are quite common. Here, we propose the first paradigm for the computation of k-mer-based alignment-free methods for…

Textual data compression in computational biology: Algorithmic techniques

2012

Abstract In a recent review [R. Giancarlo, D. Scaturro, F. Utro, Textual data compression in computational biology: a synopsis, Bioinformatics 25 (2009) 1575–1586] the first systematic organization and presentation of the impact of textual data compression for the analysis of biological data has been given. Its main focus was on a systematic presentation of the key areas of bioinformatics and computational biology where compression has been used together with a technical presentation of how well-known notions from information theory have been adapted to successfully work on biological data. Rather surprisingly, the use of data compression is pervasive in computational biology. Starting from…

Variable-order reference-free variant discovery with the Burrows-Wheeler Transform

2020

Abstract Background In [Prezza et al., AMB 2019], a new reference-free and alignment-free framework for the detection of SNPs was suggested and tested. The framework, based on the Burrows-Wheeler Transform (BWT), significantly improves sensitivity and precision of previous de Bruijn graphs based tools by overcoming several of their limitations, namely: (i) the need to establish a fixed value, usually small, for the order k, (ii) the loss of important information such as k-mer coverage and adjacency of k-mers within the same read, and (iii) bad performance in repeated regions longer than k bases. The preliminary tool, however, was able to identify only SNPs and it was too slow and memory con…

An extension of the Burrows-Wheeler Transform

2007

AbstractWe describe and highlight a generalization of the Burrows–Wheeler Transform (bwt) to a multiset of words. The extended transformation, denoted by ebwt, is reversible. Moreover, it allows to define a bijection between the words over a finite alphabet A and the finite multisets of conjugacy classes of primitive words in A∗. Besides its mathematical interest, the extended transform can be useful for applications in the context of string processing. In the last part of this paper we illustrate one such application, providing a similarity measure between sequences based on ebwt.

Applications of alignment-free methods in epigenomics

2013

Epigenetic mechanisms play an important role in the regulation of cell type-specific gene activities, yet how epigenetic patterns are established and maintained remains poorly understood. Recent studies have supported a role of DNA sequences in recruitment of epigenetic regulators. Alignment-free methods have been applied to identify distinct sequence features that are associated with epigenetic patterns and to predict epigenomic profiles. Here, we review recent advances in such applications, including the methods to map DNA sequence to feature space, sequence comparison and prediction models. Computational studies using these methods have provided important insights into the epigenetic reg…

2014

The majority of next-generation sequencing short-reads can be properly aligned by leading aligners at high speed. However, the alignment quality can still be further improved, since usually not all reads can be correctly aligned to large genomes, such as the human genome, even for simulated data. Moreover, even slight improvements in this area are important but challenging, and usually require significantly more computational endeavor. In this paper, we present CUSHAW3, an open-source parallelized, sensitive and accurate short-read aligner for both base-space and color-space sequences. In this aligner, we have investigated a hybrid seeding approach to improve alignment quality, which incorp…

Novel Combinatorial and Information-Theoretic Alignment-Free Distances for Biological Data Mining

2010

Among the plethora of alignment-free methods for comparing biological sequences, there are some that we have perceived as representative of the novel techniques that have been devised in the past few years and as being of a fundamental nature and of broad interest and applicability, ranging from combinatorics to information theory. In this chapter, we review these alignment free methods, by presenting both their mathematical definitions and the experiments in which they are involved in.

Alignment-Free Sequence Comparison over Hadoop for Computational Biology

2015

Sequence comparison i.e., The assessment of how similar two biological sequences are to each other, is a fundamental and routine task in Computational Biology and Bioinformatics. Classically, alignment methods are the de facto standard for such an assessment. In fact, considerable research efforts for the development of efficient algorithms, both on classic and parallel architectures, has been carried out in the past 50 years. Due to the growing amount of sequence data being produced, a new class of methods has emerged: Alignment-free methods. Research in this ares has become very intense in the past few years, stimulated by the advent of Next Generation Sequencing technologies, since those…

The Power of Word-Frequency Based Alignment-Free Functions: a Comprehensive Large-Scale Experimental Analysis

2021

Abstract Motivation Alignment-free (AF) distance/similarity functions are a key tool for sequence analysis. Experimental studies on real datasets abound and, to some extent, there are also studies regarding their control of false positive rate (Type I error). However, assessment of their power, i.e. their ability to identify true similarity, has been limited to some members of the D2 family. The corresponding experimental studies have concentrated on short sequences, a scenario no longer adequate for current applications, where sequence lengths may vary considerably. Such a State of the Art is methodologically problematic, since information regarding a key feature such as power is either mi…