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De novo genome assembly is the process of stitching short DNA sequences to generate longer DNA sequences, without using any reference sequence for alignment. It enables high-throughput genome sequencing and thus accelerates the discovery of…

Distributed, Parallel, and Cluster Computing · Computer Science 2018-01-16 Da Yan , Hongzhi Chen , James Cheng , Zhenkun Cai , Bin Shao

In just the last decade, a multitude of bio-technologies and software pipelines have emerged to revolutionize genomics. To further their central goal, they aim to accelerate and improve the quality of de novo whole-genome assembly starting…

Genomics · Quantitative Biology 2015-06-11 Francesco Vezzi , Giuseppe Narzisi , Bud Mishra

Contig assembly is the first stage that most assemblers solve when reconstructing a genome from a set of reads. Its output consists of contigs -- a set of strings that are promised to appear in any genome that could have generated the…

Quantitative Methods · Quantitative Biology 2016-08-18 Alexandru I. Tomescu , Paul Medvedev

The problem of assembling DNA fragments starting from imperfect strings given by a sequencer, classified as NP hard when trying to get perfect answers, has a huge importance in several fields, because of its relation with the possibility of…

Data Structures and Algorithms · Computer Science 2017-05-26 Juan Manuel Ciro Restrepo , Andrés Felipe Zapata Palacio , Mauricio Toro

Background Next Generation Sequencing (NGS) has dramatically enhanced our ability to sequence genomes, but not to assemble them. In practice, many published genome sequences remain in the state of a large set of contigs. Each contig…

Data Structures and Algorithms · Computer Science 2018-02-14 Antoine Limasset , Bastien Cazaux , Eric Rivals , Pierre Peterlongo

Genome assembly is a fundamental problem in Bioinformatics, requiring to reconstruct a source genome from an assembly graph built from a set of reads (short strings sequenced from the genome). A notion of genome assembly solution is that of…

Discrete Mathematics · Computer Science 2021-11-03 Massimo Cairo , Shahbaz Khan , Romeo Rizzi , Sebastian Schmidt , Alexandru I. Tomescu , Elia C. Zirondelli

Converting a set of sequencing reads into a lossless compact data structure that encodes all the relevant biological information is a major challenge. The classical approaches are to build the string graph or the de Bruijn graph. Each has…

Data Structures and Algorithms · Computer Science 2019-12-02 Diego Díaz-Domínguez , Travis Gagie , Gonzalo Navarro

De novo DNA assembly is a fundamental task in Bioinformatics, and finding Eulerian paths on de Bruijn graphs is one of the dominant approaches to it. In most of the cases, there may be no one order for the de Bruijn graph that works well…

Data Structures and Algorithms · Computer Science 2018-05-15 Diego Díaz-Domínguez , Djamal Belazzougui , Travis Gagie , Veli Mäkinen , Gonzalo Navarro , Simon J. Puglisi

In the past several years, the problem of genome assembly has received considerable attention from both biologists and computer scientists. An important component of current assembly methods is the scaffolding process. This process involves…

Genomics · Quantitative Biology 2013-07-03 Karl R. B. Schmitt , Aleksey V. Zimin , Guillaume Marcaçs , James A. Yorke , Michelle Girvan

Recent work identified the fundamental limits on the information requirements in terms of read length and coverage depth required for successful de novo genome reconstruction from shotgun sequencing data, based on the idealistic assumption…

Genomics · Quantitative Biology 2014-02-28 Ka-Kit Lam , Asif Khalak , David Tse

Genome assembly is a fundamental problem in Bioinformatics, where for a given set of overlapping substrings of a genome, the aim is to reconstruct the source genome. The classical approaches to solving this problem use assembly graphs, such…

Data Structures and Algorithms · Computer Science 2021-06-14 Shahbaz Khan

Motivation: Second generation sequencing technology makes it feasible for many researches to obtain enough sequence reads to attempt the de novo assembly of higher eukaryotes (including mammals). De novo assembly not only provides a tool…

Genomics · Quantitative Biology 2010-08-17 Thomas C Conway , Andrew J Bromage

De novo genome assembly focuses on finding connections between a vast amount of short sequences in order to reconstruct the original genome. The central problem of genome assembly could be described as finding a Hamiltonian path through a…

Machine Learning · Computer Science 2020-11-11 Lovro Vrček , Petar Veličković , Mile Šikić

DNA sequencing is the physical/biochemical process of identifying the location of the four bases (Adenine, Guanine, Cytosine, Thymine) in a DNA strand. As semiconductor technology revolutionized computing, modern DNA sequencing technology…

Distributed, Parallel, and Cluster Computing · Computer Science 2020-05-06 S. Karen Khatamifard , Zamshed Chowdhury , Nakul Pande , Meisam Razaviyayn , Chris Kim , Ulya R. Karpuzcu

Massively parallel sequencing techniques have revolutionized biological and medical sciences by providing unprecedented insight into the genomes of humans, animals, and microbes. Modern sequencing platforms generate enormous amounts of…

We propose a new sequencing protocol that combines recent advances in combinatorial pooling design and second-generation sequencing technology to efficiently approach de novo selective genome sequencing. We show that combinatorial pooling…

Assembling genomic sequences from a set of overlapping reads is one of the most fundamental problems in computational biology. Algorithms addressing the assembly problem fall into two broad categories -- based on the data structures which…

Data Structures and Algorithms · Computer Science 2010-03-10 Vamsi Kundeti , Sanguthevar Rajasekaran , Hieu Dinh

The computational problem of inferring the full haplotype of a cell starting from read sequencing data is known as haplotype assembly, and consists in assigning all heterozygous Single Nucleotide Polymorphisms (SNPs) to exactly one of the…

With small-scale quantum processors transitioning from experimental physics labs to industrial products, these processors allow us to efficiently compute important algorithms in various fields. In this paper, we propose a quantum algorithm…

Quantum Physics · Physics 2020-05-22 Aritra Sarkar , Zaid Al-Ars , Carmen G. Almudever , Koen Bertels

The repeat content and heterozygosity rate of a target genome are important factors in determining the feasibility of achieving a complete telomere-to-telomere assembly. The mathematical relationship between the required coverage and read…

Information Theory · Computer Science 2025-04-08 Daanish Mahajan , Chirag Jain , Navin Kashyap