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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

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

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

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

Metagenome assembly is the process of transforming a set of short, overlapping, and potentially erroneous DNA segments from environmental samples into the accurate representation of the underlying microbiomes's genomes. State-of-the-art…

Distributed, Parallel, and Cluster Computing · Computer Science 2018-09-20 Evangelos Georganas , Rob Egan , Steven Hofmeyr , Eugene Goltsman , Bill Arndt , Andrew Tritt , Aydin Buluc , Leonid Oliker , Katherine Yelick

We present a framework for the design of optimal assembly algorithms for shotgun sequencing under the criterion of complete reconstruction. We derive a lower bound on the read length and the coverage depth required for reconstruction in…

Genomics · Quantitative Biology 2013-02-20 Guy Bresler , Ma'ayan Bresler , David Tse

Deep shotgun sequencing and analysis of genomes, transcriptomes, amplified single-cell genomes, and metagenomes has enabled investigation of a wide range of organisms and ecosystems. However, sampling variation in short-read data sets and…

Genomics · Quantitative Biology 2012-05-22 C. Titus Brown , Adina Howe , Qingpeng Zhang , Alexis B. Pyrkosz , Timothy H. Brom

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

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 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 prevalent technique for DNA sequencing consists of two main steps: shotgun sequencing, where many randomly located fragments, called reads, are extracted from the overall sequence, followed by an assembly algorithm that aims to…

Genomics · Quantitative Biology 2016-01-28 Shirshendu Ganguly , Elchanan Mossel , Miklos Z. Racz

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

Despite the increased brilliance of the new generation synchrotron sources, there is still a challenge with high-resolution scanning of very thick and absorbing samples, such as the whole mouse brain stained with heavy elements, and,…

Computational Physics · Physics 2024-01-23 Viktor Nikitin , Gregg Wildenberg , Alberto Mittone , Pavel Shevchenko , Alex Deriy , Francesco De Carlo

With the increasing affordability and accessibility of genome sequencing data, de novo genome assembly is an important first step to a wide variety of downstream studies and analyses. Therefore, bioinformatics tools that enable the…

Genomics · Quantitative Biology 2023-06-09 Lauren Coombe , René L. Warren , Johnathan Wong , Vladimir Nikolic , Inanc Birol

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

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

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 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

Motivation: The application of PacBio HiFi and ultra-long ONT reads have achieved huge progress in the contig-level assembly, but it is still challenging to assemble large contigs into chromosomes with available Hi-C scaffolding software,…

Genomics · Quantitative Biology 2021-12-01 Sen Wang , Hengchao Wang , Fan Jiang , Anqi Wang , Hangwei Liu , Hanbo Zhao , Boyuan Yang , Dong Xu , Yan Zhang , Wei Fan

(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
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