606 research outputs found

    Analysis Of DNA Motifs In The Human Genome

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    DNA motifs include repeat elements, promoter elements and gene regulator elements, and play a critical role in the human genome. This thesis describes a genome-wide computational study on two groups of motifs: tandem repeats and core promoter elements. Tandem repeats in DNA sequences are extremely relevant in biological phenomena and diagnostic tools. Computational programs that discover tandem repeats generate a huge volume of data, which can be difficult to decipher without further organization. A new method is presented here to organize and rank detected tandem repeats through clustering and classification. Our work presents multiple ways of expressing tandem repeats using the n-gram model with different clustering distance measures. Analysis of the clusters for the tandem repeats in the human genome shows that the method yields a well-defined grouping in which similarity among repeats is apparent. Our new, alignment-free method facilitates the analysis of the myriad of tandem repeats replete in the human genome. We believe that this work will lead to new discoveries on the roles, origins, and significance of tandem repeats. As with tandem repeats, promoter sequences of genes contain binding sites for proteins that play critical roles in mediating expression levels. Promoter region binding proteins and their co-factors influence timing and context of transcription. Despite the critical regulatory role of these non-coding sequences, computational methods to identify and predict DNA binding sites are extremely limited. The work reported here analyzes the relative occurrence of core promoter elements (CPEs) in and around transcription start sites. We found that out of all the data sets 49\%-63\% upstream regions have either TATA box or DPE elements. Our results suggest the possibility of predicting transcription start sites through combining CPEs signals with other promoter signals such as CpG islands and clusters of specific transcription binding sites

    A Minimal Periods Algorithm with Applications

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    Kosaraju in ``Computation of squares in a string'' briefly described a linear-time algorithm for computing the minimal squares starting at each position in a word. Using the same construction of suffix trees, we generalize his result and describe in detail how to compute in O(k|w|)-time the minimal k-th power, with period of length larger than s, starting at each position in a word w for arbitrary exponent k2k\geq2 and integer s0s\geq0. We provide the complete proof of correctness of the algorithm, which is somehow not completely clear in Kosaraju's original paper. The algorithm can be used as a sub-routine to detect certain types of pseudo-patterns in words, which is our original intention to study the generalization.Comment: 14 page

    Browsing repeats in genomes: Pygram and an application to non-coding region analysis

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    BACKGROUND: A large number of studies on genome sequences have revealed the major role played by repeated sequences in the structure, function, dynamics and evolution of genomes. In-depth repeat analysis requires specialized methods, including visualization techniques, to achieve optimum exploratory power. RESULTS: This article presents Pygram, a new visualization application for investigating the organization of repeated sequences in complete genome sequences. The application projects data from a repeat index file on the analysed sequences, and by combining this principle with a query system, is capable of locating repeated sequences with specific properties. In short, Pygram provides an efficient, graphical browser for studying repeats. Implementation of the complete configuration is illustrated in an analysis of CRISPR structures in Archaea genomes and the detection of horizontal transfer between Archaea and Viruses. CONCLUSION: By proposing a new visualization environment to analyse repeated sequences, this application aims to increase the efficiency of laboratories involved in investigating repeat organization in single genomes or across several genomes

    Inference of Network Expressions

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    On the maximal sum of exponents of runs in a string

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    A run is an inclusion maximal occurrence in a string (as a subinterval) of a repetition vv with a period pp such that 2pv2p \le |v|. The exponent of a run is defined as v/p|v|/p and is 2\ge 2. We show new bounds on the maximal sum of exponents of runs in a string of length nn. Our upper bound of 4.1n4.1n is better than the best previously known proven bound of 5.6n5.6n by Crochemore & Ilie (2008). The lower bound of 2.035n2.035n, obtained using a family of binary words, contradicts the conjecture of Kolpakov & Kucherov (1999) that the maximal sum of exponents of runs in a string of length nn is smaller than 2n2nComment: 7 pages, 1 figur

    A Lossy Compression Technique Enabling Duplication-Aware Sequence Alignment

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    In spite of the recognized importance of tandem duplications in genome evolution, commonly adopted sequence comparison algorithms do not take into account complex mutation events involving more than one residue at the time, since they are not compliant with the underlying assumption of statistical independence of adjacent residues. As a consequence, the presence of tandem repeats in sequences under comparison may impair the biological significance of the resulting alignment. Although solutions have been proposed, repeat-aware sequence alignment is still considered to be an open problem and new efficient and effective methods have been advocated. The present paper describes an alternative lossy compression scheme for genomic sequences which iteratively collapses repeats of increasing length. The resulting approximate representations do not contain tandem duplications, while retaining enough information for making their comparison even more significant than the edit distance between the original sequences. This allows us to exploit traditional alignment algorithms directly on the compressed sequences. Results confirm the validity of the proposed approach for the problem of duplication-aware sequence alignment

    Linear time algorithms for finding and representing all the tandem repeats in a string

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    Gusfield D, Stoye J. Linear time algorithms for finding and representing all the tandem repeats in a string. Journal of computer and system sciences. 2004;69(4):525-546.A tandem repeat (or square) is a string [alpha][alpha], where [alpha] is a non-empty string. We present an O(|S|)-time algorithm that operates on the suffix tree T(S) for a string S, finding and marking the endpoint in T(S) of every tandem repeat that occurs in S. This decorated suffix tree implicitly represents all occurrences of tandem repeats in S, and can be used to efficiently solve many questions concerning tandem repeats and tandem arrays in S. This improves and generalizes several prior efforts to efficiently capture large subsets of tandem repeats

    A review of the current methods for computational analysis of tandem repeats

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    This paper considers some of the most important methods for computational tandem repeat analysis. The problem of repeats analysis is far from trivial due to the fact that tandems tend to be highly polymorphic motifs, i.e. or types of mutations within repeats has to be considered. The computational analysis of all types of mutations within repeats increases the time of execution, especially if chromosomes or whole genomes are subject of an analysis. On the other the time complexity significantly improves if only exact tandem repeats are considered, but this has less practical application. There are pros and cons of the methods being considered and maybe the most suitable solutions is a compromise of the opposed conceptions

    Techniques To Facilitate the Understanding of Inter-process Communication Traces

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    High Performance Computing (HPC) systems play an important role in today’s heavily digitized world, which is in a constant demand for higher speed of calculation and performance. HPC applications are used in multiple domains such as telecommunication, health, scientific research, and more. With the emergence of multi-core and cloud computing platforms, the HPC paradigm is quickly becoming the design of choice of many service providers. HPC systems are also known to be complex to debug and analyze due to the large number of processes they involve and the way these processes communicate with each other to perform specific tasks. As a result, software engineers must spend extensive amount of time understanding the complex interactions among a system’s processes. This is usually done through the analysis of execution traces generated from running the system at hand. Traces, however, are very difficult to work with due to the overwhelming size of typical traces. The objective of this research is to present a set of techniques that facilitates the understanding of the behaviour of HPC applications through the analysis of system traces. The first technique consists of building an exchange format called MTF (MPI Trace Format) for representing and exchanging traces generated from HPC applications based on the MPI (Message Passing Interface) standard, which is a de facto standard for inter-process communication for high performance computing systems. The design of MTF is validated against well-known requirements for a standard exchange format. The second technique aims to facilitate the understanding of large traces of inter-process communication by automatically extracting communication patterns that characterize their main behaviour. Two algorithms are presented. The first one permits the recognition of repeating patterns in traces of MPI (Message Passing Interaction) applications whereas the second algorithm searches if a given communication pattern occurs in a trace. Both algorithms are based on the n-gram extraction technique used in natural language processing. Finally, we developed a technique to abstract MPI traces by detecting the different execution phases in a program based on concepts from information theory. Using this approach, software engineers can examine the trace as a sequence of high-level computational phases instead of a mere flow of low-level events. The techniques presented in this thesis have been tested on traces generated from real HPC programs. The results from several case studies demonstrate the usefulness and effectiveness of our techniques
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