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相关论文: Genome assembly in the telomere-to-telomere era

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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…

基因组学 · 定量生物学 2023-06-07 Haoyu Cheng , Mobin Asri , Julian Lucas , Sergey Koren , Heng Li

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…

分布式、并行与集群计算 · 计算机科学 2017-06-01 Evangelos Georganas , Steven Hofmeyr , Rob Egan , Aydin Buluc , Leonid Oliker , Daniel Rokhsar , Katherine Yelick

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…

机器学习 · 计算机科学 2020-11-11 Lovro Vrček , Petar Veličković , Mile Šikić

A quest to determine the complete sequence of a human DNA from telomere to telomere started three decades ago and was finally completed in 2021. This accomplishment was a result of a tremendous effort of numerous experts who engineered…

基因组学 · 定量生物学 2022-06-03 Lovro Vrček , Xavier Bresson , Thomas Laurent , Martin Schmitz , Mile Šikić

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…

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…

分布式、并行与集群计算 · 计算机科学 2018-01-16 Da Yan , Hongzhi Chen , James Cheng , Zhenkun Cai , Bin Shao

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…

基因组学 · 定量生物学 2013-07-31 Jared T. Simpson

As computer scientists working in bioinformatics/computational biology, we often face the challenge of coming up with an algorithm to answer a biological question. This occurs in many areas, such as variant calling, alignment, and assembly.…

数据结构与算法 · 计算机科学 2018-01-04 Paul Medvedev

Recent advances in high-throughput genomics technologies have resulted in the sequencing of large numbers of (near) complete genomes. These genome sequences are being mined for important functional elements, such as genes. They are also…

基因组学 · 定量生物学 2007-05-23 Lior Pachter

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…

基因组学 · 定量生物学 2016-01-28 Shirshendu Ganguly , Elchanan Mossel , Miklos Z. Racz

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,…

Genome assembly, the process of reconstructing a long genetic sequence by aligning and merging short fragments, or reads, is known to be NP-hard, either as a version of the shortest common superstring problem or in a Hamiltonian-cycle…

统计力学 · 物理学 2024-03-12 L. A. Fernandez , V. Martin-Mayor , D. Yllanes

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…

基因组学 · 定量生物学 2015-01-08 Robert M. Nowak

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…

基因组学 · 定量生物学 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

Microbes are essentially yet convolutedly linked with human lives on the earth. They critically interfere in different physiological processes and thus influence overall health status. Studying microbial species is used to be constrained to…

基因组学 · 定量生物学 2021-09-03 Chao Yang , Debajyoti Chowdhury , Zhenmiao Zhang , William K. Cheung , Aiping Lu , Zhao Xiang Bian , Lu Zhang

Long-read sequencing has enabled the de novo assembly of several mammalian genomes, but with high cost in computing. Here, we demonstrated de novo assembly of mammalian genome using long reads in an efficient and inexpensive workstation.

基因组学 · 定量生物学 2017-03-31 Hikoyu Suzuki , Norichika Ogata

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…

信息论 · 计算机科学 2025-04-08 Daanish Mahajan , Chirag Jain , Navin Kashyap

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…

定量方法 · 定量生物学 2013-07-31 Viraj Deshpande , Eric DK Fung , Son Pham , Vineet Bafna

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…

信息论 · 计算机科学 2015-01-27 Ilan Shomorony , Thomas Courtade , David Tse

DNA sequencing is the basic workhorse of modern day biology and medicine. Shotgun sequencing is the dominant technique used: many randomly located short fragments called reads are extracted from the DNA sequence, and these reads are…

信息论 · 计算机科学 2013-02-15 Abolfazl Motahari , Guy Bresler , David Tse
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