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Assessing the correctness of genome assemblies is an important step in any genome project. Several methods exist, but most are computationally intensive and, in some cases, inappropriate. Here I present baa.pl, a fast and easy-to-use…

Genomics · Quantitative Biology 2014-02-10 Joseph F. Ryan

The large volumes of sequencing data required to sample complex environments deeply pose new challenges to sequence analysis approaches. De novo metagenomic assembly effectively reduces the total amount of data to be analyzed but requires…

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

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

Large biological datasets are being produced at a rapid pace and create substantial storage challenges, particularly in the domain of high-throughput sequencing (HTS). Most approaches currently used to store HTS data are either unable to…

Quantitative Methods · Quantitative Biology 2014-03-05 Fabien Campagne , Kevin C. Dorff , Nyasha Chambwe , James T. Robinson , Jill P. Mesirov , Thomas D. Wu

The formal version of our work has been published in BMC Bioinformatics and can be found here: http://www.biomedcentral.com/1471-2105/13/S6/S1 Motivation: To tackle the problem of huge memory usage associated with de Bruijn graph-based…

Data Structures and Algorithms · Computer Science 2013-01-10 Chengxi Ye , Charles H. Cannon , Zhanshan Sam Ma , Douglas W. Yu , Mihai Pop

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

Genome sequence analysis plays a pivotal role in enabling many medical and scientific advancements in personalized medicine, outbreak tracing, and forensics. However, the analysis of genome sequencing data is currently bottlenecked by the…

Hardware Architecture · Computer Science 2021-11-04 Damla Senol Cali

Identification of every single genome present in a microbial sample is an important and challenging task with crucial applications. It is challenging because there are typically millions of cells in a microbial sample, the vast majority of…

Genomics · Quantitative Biology 2014-04-29 Zeinab Taghavi , Narjes S. Movahedi , Sorin Draghici , Hamidreza Chitsaz

Metagenomic studies have primarily relied on de novo assembly for reconstructing genes and genomes from microbial mixtures. While reference-guided approaches have been employed in the assembly of single organisms, they have not been used in…

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

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

Background: In the metagenome assembly of a microbiome community, we may think abundant species would be easier to assemble due to their deeper coverage. However, this conjucture is rarely tested. We often do not know how many abundant…

Genomics · Quantitative Biology 2022-11-23 Xiaowen Feng , Heng Li

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

Self-assembly of complex and functional materials remains a grand challenge in soft material science. Efficient assembly depends on a delicate balance between thermodynamic and kinetic effects, requiring fine-tuning affinities and…

Soft Condensed Matter · Physics 2024-11-14 Wei-Shao Wei , Anthony Trubiano , Christian Sigl , Stefan Paquay , Hendrik Dietz , Michael F. Hagan , Seth Fraden

Graph embedding techniques have been increasingly deployed in a multitude of different applications that involve learning on non-Euclidean data. However, existing graph embedding models either fail to incorporate node attribute information…

Machine Learning · Computer Science 2021-06-22 Chenhui Deng , Zhiqiang Zhao , Yongyu Wang , Zhiru Zhang , Zhuo Feng

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

Genome assembly asks to reconstruct an unknown string from many shorter substrings of it. Even though it is one of the key problems in Bioinformatics, it is generally lacking major theoretical advances. Its hardness stems both from…

Discrete Mathematics · Computer Science 2020-11-10 Massimo Cairo , Romeo Rizzi , Alexandru I. Tomescu , Elia C. Zirondelli

The 3-dimensional (3D) structure of the genome is of significant importance for many cellular processes. In this paper, we study the problem of reconstructing the 3D structure of chromosomes from Hi-C data of diploid organisms, which poses…

Genomics · Quantitative Biology 2024-05-30 Diego Cifuentes , Jan Draisma , Oskar Henriksson , Annachiara Korchmaros , Kaie Kubjas

Haplotyping is the bioinformatics problem of predicting likely haplotypes based on given genotypes. It can be approached using Gusfield's perfect phylogeny haplotyping (PPH) method for which polynomial and linear time algorithms exist.…

Computational Complexity · Computer Science 2009-05-06 Michael Elberfeld