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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…

基因组学 · 定量生物学 2019-05-23 Wiktor Kuśmirek , Wiktor Franus , Robert Nowak

With the advent of Next-Generation (NG) sequencing, it has become possible to sequence an entire genome quickly and inexpensively. However, in some experiments one only needs to extract and assembly a portion of the sequence reads, for…

基因组学 · 定量生物学 2013-08-01 Ilya Y. Zhbannikov , Samuel S. Hunter , Matthew L. Settles , James A. Foster

Next-generation sequencing (NGS) is a pivotal technique in genome sequencing due to its high throughput, rapid results, cost-effectiveness, and enhanced accuracy. Its significance extends across various domains, playing a crucial role in…

基因组学 · 定量生物学 2025-04-28 Fathima Nuzla Ismail , Shanika Amarasoma

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…

Next-generation sequencing technologies generate millions of short sequence reads, which are usually aligned to a reference genome. In many applications, the key information required for downstream analysis is the number of reads mapping to…

基因组学 · 定量生物学 2016-07-26 Yang Liao , Gordon K Smyth , Wei Shi

Linking (aligning) biomedical concepts across diverse data sources enables various integrative analyses, but it is challenging due to the discrepancies in concept naming conventions. Various strategies have been developed to overcome this…

信息检索 · 计算机科学 2024-05-14 Yuzhang Xie , Jiaying Lu , Joyce Ho , Fadi Nahab , Xiao Hu , Carl Yang

Biological sequence analysis relies on the ability to denoise the imprecise output of sequencing platforms. We consider a common setting where a short sequence is read out repeatedly using a high-throughput long-read platform to generate…

基因组学 · 定量生物学 2023-09-06 Nathan Ng , Ji Won Park , Jae Hyeon Lee , Ryan Lewis Kelly , Stephen Ra , Kyunghyun Cho

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 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…

基因组学 · 定量生物学 2023-10-06 Xiang Li , Mingfu Shao

There are currently plenty of programs available for mapping short sequences (reads) to a genome. Most of them, however, including such popular and actively developed programs as Bowtie, BWA, TopHat and many others, are based on…

基因组学 · 定量生物学 2019-08-06 Igor Seledtsov , Jaroslav Efremov , Vladimir Molodtsov , Victor Solovyev

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…

分布式、并行与集群计算 · 计算机科学 2018-09-20 Evangelos Georganas , Rob Egan , Steven Hofmeyr , Eugene Goltsman , Bill Arndt , Andrew Tritt , Aydin Buluc , Leonid Oliker , Katherine Yelick

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…

硬件体系结构 · 计算机科学 2021-11-04 Damla Senol Cali

Recently, link prediction has attracted more attentions from various disciplines such as computer science, bioinformatics and economics. In this problem, unknown links between nodes are discovered based on numerous information such as…

社会与信息网络 · 计算机科学 2018-07-30 Mohammad Mehdi Keikha , Maseud Rahgozar , Masoud Asadpour

High-throughput sequencing (HTS) is revolutionizing biological research by enabling scientists to quickly and cheaply query variation at a genomic scale. Despite the increasing ease of obtaining such data, using these data effectively still…

基因组学 · 定量生物学 2012-11-09 Sonal Singhal

Short-read DNA sequencing instruments can yield over 1e+12 bases per run, typically composed of reads 150 bases long. Despite this high throughput, de novo assembly algorithms have difficulty reconstructing contiguous genome sequences using…

基因组学 · 定量生物学 2023-06-09 Eric Chen , Justin Chu , Jessica Zhang , Rene L. Warren , Inanc Birol

Motivation: De novo transcriptome assembly of non-model organisms is the first major step for many RNA-seq analysis tasks. Current methods for de novo assembly often report a large number of contiguous sequences (contigs), which may be…

基因组学 · 定量生物学 2016-04-13 Avi Srivastava , Hirak Sarkar , Laraib Malik , Rob Patro

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…

分布式、并行与集群计算 · 计算机科学 2022-07-12 Giulia Guidi , Gabriel Raulet , Daniel Rokhsar , Leonid Oliker , Katherine Yelick , Aydin Buluc

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…

量子物理 · 物理学 2026-02-11 Josh Cudby , James Bonfield , Chenxi Zhou , Richard Durbin , Sergii Strelchuk

De Bruijn graph is one of the most important data structures used in de-novo genome assembly algorithms, especially for NGS data. There is a growing need for parallel data structures and algorithms due to the increasing number of cores in…

分布式、并行与集群计算 · 计算机科学 2024-01-08 Daniel Górniak , Robert Nowak

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,…

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