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Related papers: Bermuda: Bidirectional de novo assembly of transcr…

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Motivation: Transcriptome sequencing has long been the favored method for quickly and inexpensively obtaining the sequences for a large number of genes from an organism with no reference genome. With the rapidly increasing throughputs and…

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

The high-throughput short-reads RNA-seq protocols often produce paired-end reads, with the middle portion of the fragments being unsequenced. We explore if the full-length fragments can be computationally reconstructed from the sequenced…

Genomics · Quantitative Biology 2023-10-06 Xiang Li , Mingfu Shao

de Bruijn graph-based algorithms are one of the two most widely used approaches for de novo genome assembly. A major limitation of this approach is the large computational memory space requirement to construct the de Bruijn graph, which…

Data Structures and Algorithms · Computer Science 2011-07-11 Chengxi Ye , Zhanshan Sam Ma , Charles H. Cannon , Mihai Pop , Douglas W. Yu

RNA-seq allows detection and precise quantification of transcripts, provides comprehensive understanding of exon/intron boundaries, aids discovery of alternatively spliced isoforms and fusion transcripts along with measurement of…

Genomics · Quantitative Biology 2013-06-03 Prachi Jain , Neeraja M. Krishnan , Binay Panda

Transcriptome assembly from RNA-Seq reads is an active area of bioinformatics research. The ever-declining cost and the increasing depth of RNA-Seq have provided unprecedented opportunities to better identify expressed transcripts. However,…

Computational Engineering, Finance, and Science · Computer Science 2013-06-07 Tin Chi Nguyen , Zhiyu Zhao , Dongxiao Zhu

The main challenge in de novo assembly of NGS data is certainly to deal with repeats that are longer than the reads. This is particularly true for RNA- seq data, since coverage information cannot be used to flag repeated sequences, of which…

Data Structures and Algorithms · Computer Science 2014-06-05 Gustavo Sacomoto , Blerina Sinaimeri , Camille Marchet , Vincent Miele , Marie-France Sagot , Vincent Lacroix

The rapid expansion of genomic sequence data calls for new methods to achieve robust sequence representations. Existing techniques often neglect intricate structural details, emphasizing mainly contextual information. To address this, we…

Machine Learning · Computer Science 2023-12-08 Kacper Kapuśniak , Manuel Burger , Gunnar Rätsch , Amir Joudaki

Background: With the fast development of next generation sequencing technologies, increasing numbers of genomes are being de novo sequenced and assembled. However, most are in fragmental and incomplete draft status, and thus it is often…

Genomics · Quantitative Biology 2020-02-28 Binghang Liu , Yujian Shi , Jianying Yuan , Xuesong Hu , Hao Zhang , Nan Li , Zhenyu Li , Yanxiang Chen , Desheng Mu , Wei Fan

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: 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 assembly enables investigations of unknown genomes, paving the way for personalized medicine and disease management. However, it faces immense computational challenges arising from the excessive data volumes and algorithmic…

Hardware Architecture · Computer Science 2025-05-14 Heewoo Kim , Sanjay Sri Vallabh Singapuram , Haojie Ye , Joseph Izraelevitz , Trevor Mudge , Ronald Dreslinski , Nishil Talati

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

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

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

RNA-Seq technology offers new high-throughput ways for transcript identification and quantification based on short reads, and has recently attracted great interest. The problem is usually modeled by a weighted splicing graph whose nodes…

Quantitative Methods · Quantitative Biology 2013-08-02 Alexandru I. Tomescu , Anna Kuosmanen , Romeo Rizzi , Veli Mäkinen

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

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

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

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
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