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De novo genome assembly focuses on finding connections between a vast amount of short sequences in order to reconstruct the original genome. The central problem of genome assembly could be described as finding a Hamiltonian path through a…

Machine Learning · Computer Science 2020-11-11 Lovro Vrček , Petar Veličković , Mile Šikić

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

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

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

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: 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…

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 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

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

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

Recent advances in DNA sequencing open prospects to make whole-genome analysis rapid and reliable, which is promising for various applications including personalized medicine. However, existing techniques for {\it de novo} genome assembly,…

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

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

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

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

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

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

Haplotype-resolved de novo assembly is the ultimate solution to the study of sequence variations in a genome. However, existing algorithms either collapse heterozygous alleles into one consensus copy or fail to cleanly separate the…

Genomics · Quantitative Biology 2021-02-03 Haoyu Cheng , Gregory T Concepcion , Xiaowen Feng , Haowen Zhang , Heng Li

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

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
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