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Marinella Sciortino

Publications and source records attributed to Marinella Sciortino.

24 records · Page 2Linked to original sources

Detecting Mutations by eBWT

In this paper we develop a theory describing how the extended Burrows-Wheeler Transform (eBWT) of a collection of DNA fragments tends to cluster together the copies of nucleotides sequenced from a genome G. Our theory accurately predicts how many copies of any nucleotide are expected inside each such cluster, and how an elegant and precise LCP array based procedure can locate these clusters in the eBWT. Our findings are very general and can be applied to a wide range of different problems. In this paper, we consider the case of alignment-free and reference-free SNPs discovery in multiple collections of reads. We note that, in accordance with our theoretical results, SNPs are clustered in the eBWT of the reads collection, and we develop a tool finding SNPs with a simple scan of the eBWT and LCP arrays. Preliminary results show that our method requires much less coverage than state-of-the-art tools while drastically improving precision and sensitivity.

cs.DS↗

Cyclic Complexity of Words

We introduce and study a complexity function on words $c_x(n),$ called \emph{cyclic complexity}, which counts the number of conjugacy classes of factors of length $n$ of an infinite word $x.$ We extend the well-known Morse-Hedlund theorem to the setting of cyclic complexity by showing that a word is ultimately periodic if and only if it has bounded cyclic complexity. Unlike most complexity functions, cyclic complexity distinguishes between Sturmian words of different slopes. We prove that if $x$ is a Sturmian word and $y$ is a word having the same cyclic complexity of $x,$ then up to renaming letters, $x$ and $y$ have the same set of factors. In particular, $y$ is also Sturmian of slope equal to that of $x.$ Since $c_x(n)=1$ for some $n\geq 1$ implies $x$ is periodic, it is natural to consider the quantity $\liminf_{n\rightarrow \infty} c_x(n).$ We show that if $x$ is a Sturmian word, then $\liminf_{n\rightarrow \infty} c_x(n)=2.$ We prove however that this is not a characterization of Sturmian words by exhibiting a restricted class of Toeplitz words, including the period-doubling word, which also verify this same condition on the limit infimum. In contrast we show that, for the Thue-Morse word $t$, $\liminf_{n\rightarrow \infty} c_t(n)=+\infty.$

cs.FL↗

Lightweight LCP Construction for Very Large Collections of Strings

The longest common prefix array is a very advantageous data structure that, combined with the suffix array and the Burrows-Wheeler transform, allows to efficiently compute some combinatorial properties of a string useful in several applications, especially in biological contexts. Nowadays, the input data for many problems are big collections of strings, for instance the data coming from "next-generation" DNA sequencing (NGS) technologies. In this paper we present the first lightweight algorithm (called extLCP) for the simultaneous computation of the longest common prefix array and the Burrows-Wheeler transform of a very large collection of strings having any length. The computation is realized by performing disk data accesses only via sequential scans, and the total disk space usage never needs more than twice the output size, excluding the disk space required for the input. Moreover, extLCP allows to compute also the suffix array of the strings of the collection, without any other further data structure is needed. Finally, we test our algorithm on real data and compare our results with another tool capable to work in external memory on large collections of strings.

cs.DS↗

Universal Lyndon Words

A word $w$ over an alphabet $Σ$ is a Lyndon word if there exists an order defined on $Σ$ for which $w$ is lexicographically smaller than all of its conjugates (other than itself). We introduce and study \emph{universal Lyndon words}, which are words over an $n$-letter alphabet that have length $n!$ and such that all the conjugates are Lyndon words. We show that universal Lyndon words exist for every $n$ and exhibit combinatorial and structural properties of these words. We then define particular prefix codes, which we call Hamiltonian lex-codes, and show that every Hamiltonian lex-code is in bijection with the set of the shortest unrepeated prefixes of the conjugates of a universal Lyndon word. This allows us to give an algorithm for constructing all the universal Lyndon words.

cs.DM↗

Sorting suffixes of a text via its Lyndon Factorization

The process of sorting the suffixes of a text plays a fundamental role in Text Algorithms. They are used for instance in the constructions of the Burrows-Wheeler transform and the suffix array, widely used in several fields of Computer Science. For this reason, several recent researches have been devoted to finding new strategies to obtain effective methods for such a sorting. In this paper we introduce a new methodology in which an important role is played by the Lyndon factorization, so that the local suffixes inside factors detected by this factorization keep their mutual order when extended to the suffixes of the whole word. This property suggests a versatile technique that easily can be adapted to different implementative scenarios.

cs.DS↗

Lightweight LCP Construction for Next-Generation Sequencing Datasets

The advent of "next-generation" DNA sequencing (NGS) technologies has meant that collections of hundreds of millions of DNA sequences are now commonplace in bioinformatics. Knowing the longest common prefix array (LCP) of such a collection would facilitate the rapid computation of maximal exact matches, shortest unique substrings and shortest absent words. CPU-efficient algorithms for computing the LCP of a string have been described in the literature, but require the presence in RAM of large data structures. This prevents such methods from being feasible for NGS datasets. In this paper we propose the first lightweight method that simultaneously computes, via sequential scans, the LCP and BWT of very large collections of sequences. Computational results on collections as large as 800 million 100-mers demonstrate that our algorithm scales to the vast sequence collections encountered in human whole genome sequencing experiments.

cs.DS↗