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Genome assembly from the high-throughput sequencing (HTS) reads is a fundamental yet challenging computational problem. An intrinsic challenge is the uncertainty caused by the widespread repetitive elements. Here we get around the…

Genomics · Quantitative Biology 2016-09-13 Anqi Wang , Zheng Li , Zhanyu Wang , Lei M. Li

Designing molecular structures with desired chemical properties is an essential task in drug discovery and material design. However, finding molecules with the optimized desired properties is still a challenging task due to combinatorial…

Biomolecules · Quantitative Biology 2023-02-02 Masatsugu Yamada , Mahito Sugiyama

One of the most computationally intensive tasks in computational biology is de novo genome assembly, the decoding of the sequence of an unknown genome from redundant and erroneous short sequences. A common assembly paradigm identifies…

Distributed, Parallel, and Cluster Computing · Computer Science 2020-10-21 Giulia Guidi , Oguz Selvitopi , Marquita Ellis , Leonid Oliker , Katherine Yelick , Aydin Buluc

De novo genome assembly, i.e., rebuilding the sequence of an unknown genome from redundant and erroneous short sequences, is a key but computationally intensive step in many genomics pipelines. The exponential growth of genomic data is…

Distributed, Parallel, and Cluster Computing · Computer Science 2022-07-12 Giulia Guidi , Gabriel Raulet , Daniel Rokhsar , Leonid Oliker , Katherine Yelick , Aydin Buluc

De novo genome assembly is challenging in highly repetitive regions; however, reference-guided assemblers often suffer from bias. We propose a framework for pangenome-guided sequence assembly, which can resolve short-read data in complex…

Quantum Physics · Physics 2026-02-11 Josh Cudby , James Bonfield , Chenxi Zhou , Richard Durbin , Sergii Strelchuk

Recent emergence of next-generation DNA sequencing technology has enabled acquisition of genetic information at unprecedented scales. In order to determine the genetic blueprint of an organism, sequencing platforms typically employ…

Genomics · Quantitative Biology 2015-06-19 Xiaohu Shen , Manohar Shamaiah , Haris Vikalo

DNA sequencing is the process of determining the exact order of the nucleotide bases of an individual's genome in order to catalogue sequence variation and understand its biological implications. Whole-genome sequencing techniques produce…

Data Structures and Algorithms · Computer Science 2015-09-18 Ljiljana Brankovic , Costas S. Iliopoulos , Ritu Kundu , Manal Mohamed , Solon P. Pissis , Fatima Vayani

Reducing the cost of sequencing genomes provided by next-generation sequencing technologies has greatly increased the number of genomic projects. As a result, there is a growing need for better assembly and assembly validation methods. One…

Genomics · Quantitative Biology 2022-10-17 Przemysław Stawczyk , Robert Nowak

Repetitive DNA (repeats) poses significant challenges for accurate and efficient genome assembly and sequence alignment. This is particularly true for metagenomic data, where genome dynamics such as horizontal gene transfer, gene…

Machine Learning · Computer Science 2024-02-15 Ali Azizpour , Advait Balaji , Todd J. Treangen , Santiago Segarra

Graphs are naturally used to describe the structures of various real-world systems in biology, society, computer science etc., where subgraphs or motifs as basic blocks play an important role in function expression and information…

Social and Information Networks · Computer Science 2021-02-11 Jinhuan Wang , Pengtao Chen , Bin Ma , Jiajun Zhou , Zhongyuan Ruan , Guanrong Chen , Qi Xuan

Massively parallel DNA sequencing technologies are revolutionizing genomics research. Billions of short reads generated at low costs can be assembled for reconstructing the whole genomes. Unfortunately, the large memory footprint of the…

Data Structures and Algorithms · Computer Science 2012-07-17 Yang Li , Pegah Kamousi , Fangqiu Han , Shengqi Yang , Xifeng Yan , Subhash Suri

Genome assembly using high throughput data with short reads, arguably, remains an unresolvable task in repetitive genomes, since when the length of a repeat exceeds the read length, it becomes difficult to unambiguously connect the flanking…

Quantitative Methods · Quantitative Biology 2013-07-31 Viraj Deshpande , Eric DK Fung , Son Pham , Vineet Bafna

De Bruijn graph is one of the most important data structures used in de-novo genome assembly algorithms, especially for NGS data. There is a growing need for parallel data structures and algorithms due to the increasing number of cores in…

Distributed, Parallel, and Cluster Computing · Computer Science 2024-01-08 Daniel Górniak , Robert Nowak

In this paper, we propose a semi-supervised deep learning method for detecting the specific types of reads that impede the de novo genome assembly process. Instead of dealing directly with sequenced reads, we analyze their coverage graphs…

Machine Learning · Computer Science 2019-04-24 Tomislav Šebrek , Jan Tomljanović , Josip Krapac , Mile Šikić

A quest to determine the complete sequence of a human DNA from telomere to telomere started three decades ago and was finally completed in 2021. This accomplishment was a result of a tremendous effort of numerous experts who engineered…

Genomics · Quantitative Biology 2022-06-03 Lovro Vrček , Xavier Bresson , Thomas Laurent , Martin Schmitz , Mile Šikić

Genome assembly tools based on the de Bruijn graph framework rely on a parameter k, which represents a trade-off between several competing effects that are difficult to quantify. There is currently a lack of tools that would automatically…

Genomics · Quantitative Biology 2013-04-23 Rayan Chikhi , Paul Medvedev

Over the past two decades, a series of works have aimed at studying the problem of genome assembly: the process of reconstructing a genome from sequence reads. An early formulation of the genome assembly problem showed that genome…

Genomics · Quantitative Biology 2013-12-30 Henry Lin

Deep sequencing has enabled the investigation of a wide range of environmental microbial ecosystems, but the high memory requirements for {\em de novo} assembly of short-read shotgun sequencing data from these complex populations are an…

Genomics · Quantitative Biology 2015-06-03 Jason Pell , Arend Hintze , Rosangela Canino-Koning , Adina Howe , James M. Tiedje , C. Titus Brown

This paper introduces a new family of reconstruction codes which is motivated by applications in DNA data storage and sequencing. In such applications, DNA strands are sequenced by reading some subset of their substrings. While previous…

Information Theory · Computer Science 2022-05-10 Yonatan Yehezkeally , Daniella Bar-Lev , Sagi Marcovich , Eitan Yaakobi

Earlier formulations of the DNA assembly problem were all in the context of perfect assembly; i.e., given a set of reads from a long genome sequence, is it possible to perfectly reconstruct the original sequence? In practice, however, it is…

Information Theory · Computer Science 2016-05-09 Ilan Shomorony , Govinda M. Kamath , Fei Xia , Thomas A. Courtade , David N. Tse