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Genome analysis fundamentally starts with a process known as read mapping, where sequenced fragments of an organism's genome are compared against a reference genome. Read mapping is currently a major bottleneck in the entire genome analysis…

Hardware Architecture · Computer Science 2020-10-29 Mohammed Alser , Zülal Bingöl , Damla Senol Cali , Jeremie Kim , Saugata Ghose , Can Alkan , Onur Mutlu

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

Nanopore sequencing technology has the potential to render other sequencing technologies obsolete with its ability to generate long reads and provide portability. However, high error rates of the technology pose a challenge while generating…

Genomics · Quantitative Biology 2019-12-20 Damla Senol Cali , Jeremie S. Kim , Saugata Ghose , Can Alkan , Onur Mutlu

Read mapping is a fundamental, yet computationally-expensive step in many genomics applications. It is used to identify potential matches and differences between fragments (called reads) of a sequenced genome and an already known genome…

Genome sequencing has become a central focus in computational biology. A genome study typically begins with sequencing, which produces millions to billions of short DNA fragments known as reads. Read mapping aligns these reads to a…

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

DNA sequencing is the physical/biochemical process of identifying the location of the four bases (Adenine, Guanine, Cytosine, Thymine) in a DNA strand. As semiconductor technology revolutionized computing, modern DNA sequencing technology…

Distributed, Parallel, and Cluster Computing · Computer Science 2020-05-06 S. Karen Khatamifard , Zamshed Chowdhury , Nakul Pande , Meisam Razaviyayn , Chris Kim , Ulya R. Karpuzcu

Nanopore sequencing generates noisy electrical signals that need to be converted into a standard string of DNA nucleotide bases using a computational step called basecalling. The accuracy and speed of basecalling have critical implications…

Low-cost, high-throughput DNA and RNA sequencing (HTS) data is the backbone of the life sciences. Genome sequencing is now becoming a part of Predictive, Preventive, Personalized, and Participatory (termed 'P4') medicine. All genomic data…

A genome read data set can be quickly and efficiently remapped from one reference to another similar reference (e.g., between two reference versions or two similar species) using a variety of tools, e.g., the commonly-used CrossMap tool.…

Genomics · Quantitative Biology 2023-11-21 Jeremie S. Kim , Can Firtina , Meryem Banu Cavlak , Damla Senol Cali , Can Alkan , Onur Mutlu

Genome analysis has revolutionized fields such as personalized medicine and forensics. Modern sequencing machines generate vast amounts of fragmented strings of genome data called reads. The alignment of these reads into a complete DNA…

Hardware Architecture · Computer Science 2024-11-22 Rotem Ben-Hur , Orian Leitersdorf , Ronny Ronen , Lidor Goldshmidt , Idan Magram , Lior Kaplun , Leonid Yavitz , Shahar Kvatinsky

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

Genome sequence analysis has enabled significant advancements in medical and scientific areas such as personalized medicine, outbreak tracing, and the understanding of evolution. Unfortunately, it is currently bottlenecked by the…

Miniature DNA sequencing hardware has begun to succeed in mobile contexts, driving demand for efficient machine learning at the edge. This domain leverages deep learning techniques familiar from speech and time-series analysis for both…

Hardware Architecture · Computer Science 2025-10-13 Sebastian Magierowski , Zhongpan Wu , Abel Beyene , Karim Hammad

Motivation: Read mapping is a computationally expensive process and a major bottleneck in genomics analyses. The performance of read mapping is mainly limited by the performance of three key computational steps: Index Querying, Seed…

Hardware Architecture · Computer Science 2023-10-02 Julien Eudine , Mohammed Alser , Gagandeep Singh , Can Alkan , Onur Mutlu

Purpose Nanopore-based molecular sensing and measurement, specifically Deoxyribonucleic acid (DNA) sequencing, is advancing at a fast pace. Some embodiments have matured from coarse particle counters to enabling full human genome assembly.…

Instrumentation and Detectors · Physics 2021-10-06 Mehdi Habibi , Yunus Dawji , Ebrahim Ghafar-Zadeh , Sebastian Magierowski

As genome sequencing is finding utility in a wide variety of domains beyond the confines of traditional medical settings, its computational pipeline faces two significant challenges. First, the creation of up to 0.5 GB of data per minute…

The determination of a patient's DNA sequence can, in principle, reveal an increased risk to fall ill with particular diseases [1,2] and help to design "personalized medicine" [3]. Moreover, statistical studies and comparison of genomes [4]…

DNA sequence classification is a fundamental task in computational biology with vast implications for applications such as disease prevention and drug design. Therefore, fast high-quality sequence classifiers are significantly important.…

Machine Learning · Computer Science 2023-11-07 Marcel Khalifa , Barak Hoffer , Orian Leitersdorf , Robert Hanhan , Ben Perach , Leonid Yavits , Shahar Kvatinsky

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
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