arXiv subjects

Gianluca Della Vedova

Publications and source records attributed to Gianluca Della Vedova.

At least 19 recordsLinked to original sources

arXiv2026

Compact Path Representation in DAGs via Colored Edge Pebbling

Compactly representing a variation graph is a core problem in computational pangenomics that is usually attacked with techniques that have been originated on texts and adapted to graphs. In this paper we propose a new framework that takes a topology-centric perspective instead. A variation graph is modeled as a directed acyclic graph (DAG) together with a set of distinguished paths, where each path is assigned a distinct color. Our compact representation is centered on pebbling the graph, i.e. placing colored pebbles on edges so that every predefined path can be univocally reconstructed from the pebbled edges. In particular, a saturated pebbling marks each chosen edge with every path (color) traversing it. We first propose a data structure to represent and query a variation graph with storage space depending on the size of the pebbling. The supported queries are: (i) path query, which recovers a path given its color, and (ii) edge query, which reports the colors of paths traversing a given edge. We then prove that the problem of finding a pebbling of minimum size is solvable in polynomial time. On the contrary, we prove that finding a saturated pebbling of minimum size is NP-hard, but can be reduced to the minimum-weight set cover problem, allowing us to leverage integer linear programming (ILP) solvers. We show how to exploit saturated pebblings to achieve faster queries times than minimum size pebbling. Our framework opens a new algorithmic viewpoint on developing more efficient variation graph representations rooted on the study of the topology of those graphs.

cs.DS↗

arXiv2025

On recognizing graphs representing Persistent Perfect Phylogenies

The Persistent Perfect phylogeny, also known as Dollo-1, has been introduced as a generalization of the well-known perfect phylogenetic model for binary characters to deal with the potential loss of characters. The problem of deciding the existence of a Persistent Perfect phylogeny can be reduced to the one of recognizing a class of bipartite graphs whose nodes are species and characters. Thus an interesting question is solving directly the problem of recognizing such graphs. We present a polynomial-time algorithm for deciding Persistent Perfect phylogeny existence in maximal graphs, where no character's species set is contained within another character's species set. Our solution, that relies only on graph properties, narrows the gap between the linear-time simple algorithm for Perfect Phylogeny and the NP-hardness results for the Dollo-$k$ phylogeny with $k>1$.

cs.DS↗

arXiv2025

On Computing the Dollo-1 phylogeny in polynomial time

The Dollo model for reconstructing evolutionary trees from binary characters has been proposed as a generalization of the infinite sites model, also known as the Perfect Phylogeny. In particular, the Dollo model is considered more realistic than the Perfect Phylogeny for inferring the evolution of tumor mutations. In the case of binary matrices, the Dollo-$k$ model requires an evolutionary tree in which each character, corresponding to a column in the input matrix, may change from $0$ to $1$ at most once, and from $1$ to $0$ at most $k$ times throughout the entire tree. Given a binary matrix, the problem of deciding whether there exists a Dollo-$k$ tree compatible with the matrix is NP-complete for any fixed $k \geq 2$, while computing a Dollo-$0$ tree corresponds to the Perfect Phylogeny decision problem, which admits a simple linear-time algorithm. The Dollo-$1$ tree problem corresponds to the Persistent Phylogeny problem, whose computational complexity, albeit under an equivalent formulation, was posed as an open question 20 years ago. We solve this problem by presenting a polynomial-time algorithm for the Persistent Phylogeny problem. Our solution relies on efficiently solving a specific class of binary matrices, represented as bipartite graphs called \emph{skeleton graphs}, or simply skeletons. In these graphs, characters are \emph{maximal}, that is their corresponding sets of species are not related by inclusion.

cs.DS↗

arXiv2022

Reads2Vec: Efficient Embedding of Raw High-Throughput Sequencing Reads Data

The massive amount of genomic data appearing for SARS-CoV-2 since the beginning of the COVID-19 pandemic has challenged traditional methods for studying its dynamics. As a result, new methods such as Pangolin, which can scale to the millions of samples of SARS-CoV-2 currently available, have appeared. Such a tool is tailored to take as input assembled, aligned and curated full-length sequences, such as those found in the GISAID database. As high-throughput sequencing technologies continue to advance, such assembly, alignment and curation may become a bottleneck, creating a need for methods which can process raw sequencing reads directly. In this paper, we propose Reads2Vec, an alignment-free embedding approach that can generate a fixed-length feature vector representation directly from the raw sequencing reads without requiring assembly. Furthermore, since such an embedding is a numerical representation, it may be applied to highly optimized classification and clustering algorithms. Experiments on simulated data show that our proposed embedding obtains better classification results and better clustering properties contrary to existing alignment-free baselines. In a study on real data, we show that alignment-free embeddings have better clustering properties than the Pangolin tool and that the spike region of the SARS-CoV-2 genome heavily informs the alignment-free clusterings, which is consistent with current biological knowledge of SARS-CoV-2.

q-bio.QM↗

arXiv2020

Computing the BWT and LCP array of a Set of Strings in External Memory

Indexing very large collections of strings, such as those produced by the widespread next generation sequencing technologies, heavily relies on multistring generalization of the Burrows-Wheeler Transform (BWT): large requirements of in-memory approaches have stimulated recent developments on external memory algorithms. The related problem of computing the Longest Common Prefix (LCP) array of a set of strings is instrumental to compute the suffix-prefix overlaps among strings, which is an essential step for many genome assembly algorithms. In a previous paper, we presented an in-memory divide-and-conquer method for building the BWT and LCP where we merge partial BWTs with a forward approach to sort suffixes. In this paper, we propose an alternative backward strategy to develop an external memory method to simultaneously build the BWT and the LCP array on a collection of m strings of different lengths. The algorithm over a set of strings having constant length k has O(mkl) time and I/O volume, using O(k + m) main memory, where l is the maximum value in the LCP array.

cs.DS↗

arXiv2019

A rearrangement distance for fully-labelled trees

The problem of comparing trees representing the evolutionary histories of cancerous tumors has turned out to be crucial, since there is a variety of different methods which typically infer multiple possible trees. A departure from the widely studied setting of classical phylogenetics, where trees are leaf-labelled, tumoral trees are fully labelled, i.e., \emph{every} vertex has a label. In this paper we provide a rearrangement distance measure between two fully-labelled trees. This notion originates from two operations: one which modifies the topology of the tree, the other which permutes the labels of the vertices, hence leaving the topology unaffected. While we show that the distance between two trees in terms of each such operation alone can be decided in polynomial time, the more general notion of distance when both operations are allowed is NP-hard to decide. Despite this result, we show that it is fixed-parameter tractable, and we give a 4-approximation algorithm when one of the trees is binary.

cs.DS↗

arXiv2017

FSG: Fast String Graph Construction for De Novo Assembly of Reads Data

The string graph for a collection of next-generation reads is a lossless data representation that is fundamental for de novo assemblers based on the overlap-layout-consensus paradigm. In this paper, we explore a novel approach to compute the string graph, based on the FM-index and Burrows-Wheeler Transform. We describe a simple algorithm that uses only the FM-index representation of the collection of reads to construct the string graph, without accessing the input reads. Our algorithm has been integrated into the SGA assembler as a standalone module to construct the string graph. The new integrated assembler has been assessed on a standard benchmark, showing that FSG is significantly faster than SGA while maintaining a moderate use of main memory, and showing practical advantages in running FSG on multiple threads.

cs.DS↗

arXiv2016

A New Lightweight Algorithm to compute the BWT and the LCP array of a Set of Strings

Indexing of very large collections of strings such as those produced by the widespread sequencing technologies, heavily relies on multi-string generalizations of the Burrows-Wheeler Transform (BWT), and for this problem various in-memory algorithms have been proposed. The rapid growing of data that are processed routinely, such as in bioinformatics, requires a large amount of main memory, and this fact has motivated the development of algorithms, to compute the BWT, that work almost entirely in external memory. On the other hand, the related problem of computing the Longest Common Prefix (LCP) array is often instrumental in several algorithms on collection of strings, such as those that compute the suffix-prefix overlap among strings, which is an essential step for many genome assembly algorithms. The best current lightweight approach to compute BWT and LCP array on a set of $m$ strings, each one $k$ characters long, has I/O complexity that is $O(mk^2 \log |Σ|)$ (where $|Σ|$ is the size of the alphabet), thus it is not optimal. In this paper we propose a novel approach to build BWT and LCP array (simultaneously) with $O(kmL(\log k +\log σ))$ I/O complexity, where $L$ is the length of longest substring that appears at least twice in the input strings.

cs.DS↗

arXiv2015

An External-Memory Algorithm for String Graph Construction

Some recent results have introduced external-memory algorithms to compute self-indexes of a set of strings, mainly via computing the Burrows-Wheeler Transform (BWT) of the input strings. The motivations for those results stem from Bioinformatics, where a large number of short strings (called reads) are routinely produced and analyzed. In that field, a fundamental problem is to assemble a genome from a large set of much shorter samples extracted from the unknown genome. The approaches that are currently used to tackle this problem are memory-intensive. This fact does not bode well with the ongoing increase in the availability of genomic data. A data structure that is used in genome assembly is the string graph, where vertices correspond to samples and arcs represent two overlapping samples. In this paper we address an open problem: to design an external-memory algorithm to compute the string graph.

cs.DS↗

arXiv2014

Algorithms for the Constrained Perfect Phylogeny with Persistent Characters

The perfect phylogeny is one of the most used models in different areas of computational biology. In this paper we consider the problem of the Persistent Perfect Phylogeny (referred as P-PP) recently introduced to extend the perfect phylogeny model allowing persistent characters, that is characters can be gained and lost at most once. We define a natural generalization of the P-PP problem obtained by requiring that for some pairs (character, species), neither the species nor any of its ancestors can have the character. In other words, some characters cannot be persistent for some species. This new problem is called Constrained P-PP (CP-PP). Based on a graph formulation of the CP-PP problem, we are able to provide a polynomial time solution for the CP-PP problem for matrices having an empty conflict-graph. In particular we show that all such matrices admit a persistent perfect phylogeny in the unconstrained case. Using this result, we develop a parameterized algorithm for solving the CP-PP problem where the parameter is the number of characters. A preliminary experimental analysis of the algorithm shows that it performs efficiently and it may analyze real haplotype data not conforming to the classical perfect phylogeny model.

cs.DS↗

arXiv2012

Reconstructing Isoform Graphs from RNA-Seq data

Next-generation sequencing (NGS) technologies allow new methodologies for alternative splicing (AS) analysis. Current computational methods for AS from NGS data are mainly focused on predicting splice site junctions or de novo assembly of full-length transcripts. These methods are computationally expensive and produce a huge number of full-length transcripts or splice junctions, spanning the whole genome of organisms. Thus summarizing such data into the different gene structures and AS events of the expressed genes is an hard task. To face this issue in this paper we investigate the computational problem of reconstructing from NGS data, in absence of the genome, a gene structure for each gene that is represented by the isoform graph: we introduce such graph and we show that it uniquely summarizes the gene transcripts. We define the computational problem of reconstructing the isoform graph and provide some conditions that must be met to allow such reconstruction. Finally, we describe an efficient algorithmic approach to solve this problem, validating our approach with both a theoretical and an experimental analysis.

q-bio.GN↗

arXiv2012

A Unifying Framework to Characterize the Power of a Language to Express Relations

In this extended abstract we provide a unifying framework that can be used to characterize and compare the expressive power of query languages for different data base models. The framework is based upon the new idea of valid partition, that is a partition of the elements of a given data base, where each class of the partition is composed by elements that cannot be separated (distinguished) according to some level of information contained in the data base. We describe two applications of this new framework, first by deriving a new syntactic characterization of the expressive power of relational algebra which is equivalent to the one given by Paredaens, and subsequently by studying the expressive power of a simple graph-based data model.

cs.DB↗

arXiv2011

Haplotype Inference on Pedigrees with Recombinations, Errors, and Missing Genotypes via SAT solvers

The Minimum-Recombinant Haplotype Configuration problem (MRHC) has been highly successful in providing a sound combinatorial formulation for the important problem of genotype phasing on pedigrees. Despite several algorithmic advances and refinements that led to some efficient algorithms, its applicability to real datasets has been limited by the absence of some important characteristics of these data in its formulation, such as mutations, genotyping errors, and missing data. In this work, we propose the Haplotype Configuration with Recombinations and Errors problem (HCRE), which generalizes the original MRHC formulation by incorporating the two most common characteristics of real data: errors and missing genotypes (including untyped individuals). Although HCRE is computationally hard, we propose an exact algorithm for the problem based on a reduction to the well-known Satisfiability problem. Our reduction exploits recent progresses in the constraint programming literature and, combined with the use of state-of-the-art SAT solvers, provides a practical solution for the HCRE problem. Biological soundness of the phasing model and effectiveness (on both accuracy and performance) of the algorithm are experimentally demonstrated under several simulated scenarios and on a real dairy cattle population.

cs.DS↗

arXiv2010

Parameterized Complexity of the k-anonymity Problem

The problem of publishing personal data without giving up privacy is becoming increasingly important. An interesting formalization that has been recently proposed is the $k$-anonymity. This approach requires that the rows of a table are partitioned in clusters of size at least $k$ and that all the rows in a cluster become the same tuple, after the suppression of some entries. The natural optimization problem, where the goal is to minimize the number of suppressed entries, is known to be APX-hard even when the records values are over a binary alphabet and $k=3$, and when the records have length at most 8 and $k=4$ . In this paper we study how the complexity of the problem is influenced by different parameters. In this paper we follow this direction of research, first showing that the problem is W[1]-hard when parameterized by the size of the solution (and the value $k$). Then we exhibit a fixed parameter algorithm, when the problem is parameterized by the size of the alphabet and the number of columns. Finally, we investigate the computational (and approximation) complexity of the $k$-anonymity problem, when restricting the instance to records having length bounded by 3 and $k=3$. We show that such a restriction is APX-hard.

cs.DS↗

arXiv2010

PIntron: a Fast Method for Gene Structure Prediction via Maximal Pairings of a Pattern and a Text

Current computational methods for exon-intron structure prediction from a cluster of transcript (EST, mRNA) data do not exhibit the time and space efficiency necessary to process large clusters of over than 20,000 ESTs and genes longer than 1Mb. Guaranteeing both accuracy and efficiency seems to be a computational goal quite far to be achieved, since accuracy is strictly related to exploiting the inherent redundancy of information present in a large cluster. We propose a fast method for the problem that combines two ideas: a novel algorithm of proved small time complexity for computing spliced alignments of a transcript against a genome, and an efficient algorithm that exploits the inherent redundancy of information in a cluster of transcripts to select, among all possible factorizations of EST sequences, those allowing to infer splice site junctions that are highly confirmed by the input data. The EST alignment procedure is based on the construction of maximal embeddings that are sequences obtained from paths of a graph structure, called Embedding Graph, whose vertices are the maximal pairings of a genomic sequence T and an EST P. The procedure runs in time linear in the size of P, T and of the output. PIntron, the software tool implementing our methodology, is able to process in a few seconds some critical genes that are not manageable by other gene structure prediction tools. At the same time, PIntron exhibits high accuracy (sensitivity and specificity) when compared with ENCODE data. Detailed experimental data, additional results and PIntron software are available at http://www.algolab.eu/PIntron.

q-bio.GN↗

arXiv2010

Pure Parsimony Xor Haplotyping

The haplotype resolution from xor-genotype data has been recently formulated as a new model for genetic studies. The xor-genotype data is a cheaply obtainable type of data distinguishing heterozygous from homozygous sites without identifying the homozygous alleles. In this paper we propose a formulation based on a well-known model used in haplotype inference: pure parsimony. We exhibit exact solutions of the problem by providing polynomial time algorithms for some restricted cases and a fixed-parameter algorithm for the general case. These results are based on some interesting combinatorial properties of a graph representation of the solutions. Furthermore, we show that the problem has a polynomial time k-approximation, where k is the maximum number of xor-genotypes containing a given SNP. Finally, we propose a heuristic and produce an experimental analysis showing that it scales to real-world large instances taken from the HapMap project.

cs.CE↗

arXiv2009

Variants of Constrained Longest Common Subsequence

In this work, we consider a variant of the classical Longest Common Subsequence problem called Doubly-Constrained Longest Common Subsequence (DC-LCS). Given two strings s1 and s2 over an alphabet A, a set C_s of strings, and a function Co from A to N, the DC-LCS problem consists in finding the longest subsequence s of s1 and s2 such that s is a supersequence of all the strings in Cs and such that the number of occurrences in s of each symbol a in A is upper bounded by Co(a). The DC-LCS problem provides a clear mathematical formulation of a sequence comparison problem in Computational Biology and generalizes two other constrained variants of the LCS problem: the Constrained LCS and the Repetition-Free LCS. We present two results for the DC-LCS problem. First, we illustrate a fixed-parameter algorithm where the parameter is the length of the solution. Secondly, we prove a parameterized hardness result for the Constrained LCS problem when the parameter is the number of the constraint strings and the size of the alphabet A. This hardness result also implies the parameterized hardness of the DC-LCS problem (with the same parameters) and its NP-hardness when the size of the alphabet is constant.

cs.DS↗

arXiv2009

A PTAS for the Minimum Consensus Clustering Problem with a Fixed Number of Clusters

The Consensus Clustering problem has been introduced as an effective way to analyze the results of different microarray experiments. The problem consists of looking for a partition that best summarizes a set of input partitions (each corresponding to a different microarray experiment) under a simple and intuitive cost function. The problem admits polynomial time algorithms on two input partitions, but is APX-hard on three input partitions. We investigate the restriction of Consensus Clustering when the output partition is required to contain at most k sets, giving a polynomial time approximation scheme (PTAS) while proving the NP-hardness of this restriction.

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