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De novo assembly is the process of reconstructing the genome sequence of an organism from sequencing reads. Genome sequences are essential to biology, and assembly has been a central problem in bioinformatics for four decades. Until…

Genomics · Quantitative Biology 2023-08-16 Heng Li , Richard Durbin

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

(An updated version of this manuscript has been accepted to Scientific Reports in 2016, please refer to http://www.nature.com/articles/srep31900) The highly anticipated transition from next generation sequencing (NGS) to third generation…

Genomics · Quantitative Biology 2016-09-06 Chengxi Ye , Chris Hill , Shigang Wu , Jue Ruan , Zhanshan , Ma

High read depth can be used to assemble short sequence repeats. The existing genome assemblers fail in repetitive regions of longer than average read. I propose a new algorithm for a DNA assembly which uses the relative frequency of reads…

Genomics · Quantitative Biology 2015-01-08 Robert M. Nowak

Background: The short reads output by first- and second-generation DNA sequencing instruments cannot completely reconstruct microbial chromosomes. Therefore, most genomes have been left unfinished due to the significant resources required…

Background - The process of generating raw genome sequence data continues to become cheaper, faster, and more accurate. However, assembly of such data into high-quality, finished genome sequences remains challenging. Many genome assembly…

Genomics · Quantitative Biology 2015-02-02 Keith R. Bradnam , Joseph N. Fass , Anton Alexandrov , Paul Baranay , Michael Bechner , İnanç Birol , Sébastien Boisvert , Jarrod A. Chapman , Guillaume Chapuis , Rayan Chikhi , Hamidreza Chitsaz , Wen-Chi Chou , Jacques Corbeil , Cristian Del Fabbro , T. Roderick Docking , Richard Durbin , Dent Earl , Scott Emrich , Pavel Fedotov , Nuno A. Fonseca , Ganeshkumar Ganapathy , Richard A. Gibbs , Sante Gnerre , Élénie Godzaridis , Steve Goldstein , Matthias Haimel , Giles Hall , David Haussler , Joseph B. Hiatt , Isaac Y. Ho , Jason Howard , Martin Hunt , Shaun D. Jackman , David B Jaffe , Erich Jarvis , Huaiyang Jiang , Sergey Kazakov , Paul J. Kersey , Jacob O. Kitzman , James R. Knight , Sergey Koren , Tak-Wah Lam , Dominique Lavenier , François Laviolette , Yingrui Li , Zhenyu Li , Binghang Liu , Yue Liu , Ruibang Luo , Iain MacCallum , Matthew D MacManes , Nicolas Maillet , Sergey Melnikov , Bruno Miguel Vieira , Delphine Naquin , Zemin Ning , Thomas D. Otto , Benedict Paten , Octávio S. Paulo , Adam M. Phillippy , Francisco Pina-Martins , Michael Place , Dariusz Przybylski , Xiang Qin , Carson Qu , Filipe J Ribeiro , Stephen Richards , Daniel S. Rokhsar , J. Graham Ruby , Simone Scalabrin , Michael C. Schatz , David C. Schwartz , Alexey Sergushichev , Ted Sharpe , Timothy I. Shaw , Jay Shendure , Yujian Shi , Jared T. Simpson , Henry Song , Fedor Tsarev , Francesco Vezzi , Riccardo Vicedomini , Jun Wang , Kim C. Worley , Shuangye Yin , Siu-Ming Yiu , Jianying Yuan , Guojie Zhang , Hao Zhang , Shiguo Zhou , Ian F. Korf

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

De novo whole genome assembly reconstructs genomic sequence from short, overlapping, and potentially erroneous DNA segments and is one of the most important computations in modern genomics. This work presents HipMER, a high-quality…

Distributed, Parallel, and Cluster Computing · Computer Science 2017-06-01 Evangelos Georganas , Steven Hofmeyr , Rob Egan , Aydin Buluc , Leonid Oliker , Daniel Rokhsar , Katherine Yelick

Despite recent advances in the length and the accuracy of long-read data, building haplotype-resolved genome assemblies from telomere to telomere still requires considerable computational resources. In this study, we present an efficient de…

Genomics · Quantitative Biology 2023-06-07 Haoyu Cheng , Mobin Asri , Julian Lucas , Sergey Koren , Heng Li

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

Current metagenome assemblers developed for short sequence reads or noisy long readswere not optimized for accurate long reads. Here we describe hifiasm-meta, a new metagenome assembler that exploits the high accuracy of recent data.…

Genomics · Quantitative Biology 2021-10-19 Xiaowen Feng , Haoyu Cheng , Daniel Portik , Heng Li

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

While most current high-throughput DNA sequencing technologies generate short reads with low error rates, emerging sequencing technologies generate long reads with high error rates. A basic question of interest is the tradeoff between read…

Information Theory · Computer Science 2015-01-27 Ilan Shomorony , Thomas Courtade , David Tse

De novo genome assembly is a relevant but computationally complex task in genomics. Although de novo assemblers have been used successfully in several genomics projects, there is still no 'best assembler', and the choice and setup of…

The de novo assembly of large, complex genomes is a significant challenge with currently available DNA sequencing technology. While many de novo assembly software packages are available, comparatively little attention has been paid to…

Genomics · Quantitative Biology 2013-07-31 Jared T. Simpson

The tremdendous advances in high-throughput sequencing technologies have made population-scale sequencing as performed in the 1000 Genomes project and the Genome of the Netherlands project possible. Next-generation sequencing has allowed…

Genomics · Quantitative Biology 2013-03-15 Tobias Marschall , Alexander Schönhuth

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

Motivation: New long read sequencers promise to transform sequencing and genome assembly by producing reads tens of kilobases long. However their high error rate significantly complicates assembly and requires expensive correction steps to…

Genomics · Quantitative Biology 2017-07-18 Antoine Recanati , Thomas Brüls , Alexandre d'Aspremont

Currently, third-generation sequencing techniques, which allow to obtain much longer DNA reads compared to the next-generation sequencing technologies, are becoming more and more popular. There are many possibilities to combine data from…

Genomics · Quantitative Biology 2019-05-23 Wiktor Kuśmirek , Wiktor Franus , Robert Nowak

The fall of prices of the high-throughput genome sequencing changes the landscape of modern genomics. A number of large scale projects aimed at sequencing many human genomes are in progress. Genome sequencing also becomes an important aid…

Data Structures and Algorithms · Computer Science 2017-03-03 Sebastian Deorowicz , Agnieszka Danek , Marcin Niemiec
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