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Summary: Raw nanopore signals can be analyzed while they are being generated, a process known as real-time analysis. Real-time analysis of raw signals is essential to utilize the unique features that nanopore sequencing provides, enabling…

Genomics · Quantitative Biology 2024-08-14 Can Firtina , Melina Soysal , Joël Lindegger , Onur Mutlu

The advent of high-throughput sequencing technologies has revolutionized genome analysis by enabling the rapid and cost-effective sequencing of large genomes. Despite these advancements, the increasing complexity and volume of genomic data…

Genomics · Quantitative Biology 2025-03-06 Can Firtina

Nanopore sequencers generate raw electrical signals representing the contents of a biological sequence molecule passing through the nanopore. These signals can be analyzed directly, avoiding basecalling entirely. We observe that while…

Genomics · Quantitative Biology 2024-10-24 Joël Lindegger , Can Firtina , Nika Mansouri Ghiasi , Mohammad Sadrosadati , Mohammed Alser , Onur Mutlu

Nanopore sequencers generate electrical raw signals in real-time while sequencing long genomic strands. These raw signals can be analyzed as they are generated, providing an opportunity for real-time genome analysis. An important feature of…

Nanopore sequencing technologies continue to advance rapidly, offering critical benefits such as real-time analysis, the ability to sequence extremely long DNA fragments (up to millions of bases in a single read), and the option to…

Genomics · Quantitative Biology 2025-10-07 Furkan Eris , Ulysse McConnell , Can Firtina , Onur Mutlu

Nanopore sequencing can read substantially longer sequences of nucleic acid molecules, called reads, than other sequencing methods, which has led to advances in genomic analysis such as the gapless human genome assembly. By analyzing the…

Genomics · Quantitative Biology 2026-05-21 Simon Ambrozak , Ulysse McConnell , Bhargav Srinivasan , Burak Ozkan , Ernest Zhang , Can Firtina

Genome assembly is a prominent problem studied in bioinformatics, which computes the source string using a set of its overlapping substrings. Classically, genome assembly uses assembly graphs built using this set of substrings to compute…

Data Structures and Algorithms · Computer Science 2024-09-24 Saumya Talera , Parth Bansal , Shabnam Khan , Shahbaz Khan

Nanopore sequencing enables real-time long-read DNA sequencing with reads exceeding 10 kilobases, but inherent error rates of 12-15 percent present significant computational challenges for read alignment. The critical seed chaining step…

Genomics · Quantitative Biology 2025-11-05 Jahidul Arafat , Sanjaya Poudel

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

Nanopore sequencing is a widely-used high-throughput genome sequencing technology that can sequence long fragments of a genome into raw electrical signals at low cost. Nanopore sequencing requires two computationally-costly processing steps…

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

Nanopore genome sequencing is the key to enabling personalized medicine, global food security, and virus surveillance. The state-of-the-art base-callers adopt deep neural networks (DNNs) to translate electrical signals generated by nanopore…

Hardware Architecture · Computer Science 2020-08-10 Qian Lou , Sarath Janga , Lei Jiang

Reducing the cost of sequencing genomes provided by next-generation sequencing technologies has greatly increased the number of genomic projects. As a result, there is a growing need for better assembly and assembly validation methods. One…

Genomics · Quantitative Biology 2022-10-17 Przemysław Stawczyk , Robert Nowak

Nanopore based sequencing has demonstrated significant potential for the development of fast, accurate, and cost-efficient fingerprinting techniques for next generation molecular detection and sequencing. We propose a specific multi-layered…

Mesoscale and Nanoscale Physics · Physics 2014-05-15 Towfiq Ahmed , Jason T. Haraldsen , John J. Rehr , Massimiliano Di Ventra , Ivan K. Schuller , Alexander V. Balatsky

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

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

Advances in third-generation sequencing have enabled portable and real-time genomic sequencing, but real-time data processing remains a bottleneck, hampering on-site genomic analysis due to prohibitive time and energy costs. These…

Emerging Technologies · Computer Science 2025-04-23 Peiyi He , Shengbo Wang , Ruibin Mao , Sebastian Siegel , Giacomo Pedretti , Jim Ignowski , John Paul Strachan , Ruibang Luo , Can Li

The computational problem of inferring the full haplotype of a cell starting from read sequencing data is known as haplotype assembly, and consists in assigning all heterozygous Single Nucleotide Polymorphisms (SNPs) to exactly one of the…

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

Motivation: Illumina DNA sequencing is now the predominant source of raw genomic data, and data volumes are growing rapidly. Bioinformatic analysis pipelines are having trouble keeping pace. A common bottleneck in such pipelines is the…

Genomics · Quantitative Biology 2014-09-09 Gregory G. Faust , Ira M. Hall
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