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Genome sequences contain hundreds of millions of DNA base pairs. Finding the degree of similarity between two genomes requires executing a compute-intensive dynamic programming algorithm, such as Smith-Waterman. Traditional von Neumann…

Emerging Technologies · Computer Science 2019-01-21 Roman Kaplan , Leonid Yavits , Ran Ginosar

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

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

Genomics is the critical key to enabling precision medicine, ensuring global food security and enforcing wildlife conservation. The massive genomic data produced by various genome sequencing technologies presents a significant challenge for…

Genomics · Quantitative Biology 2019-10-03 Farzaneh Zokaee , Mingzhe Zhang , Lei Jiang

Next Generation Sequencing (NGS), a recently evolved technology, have served a lot in the research and development sector of our society. This novel approach is a newbie and has critical advantages over the traditional Capillary…

Genomics · Quantitative Biology 2020-05-01 Khalid Raza , Sabahuddin Ahmad

Effective search methods are crucial for improving the performance of deep generative models at test time. In this paper, we introduce a novel test-time search method, Neural Genetic Search (NGS), which incorporates the evolutionary…

Neural and Evolutionary Computing · Computer Science 2025-06-18 Hyeonah Kim , Sanghyeok Choi , Jiwoo Son , Jinkyoo Park , Changhyun Kwon

Persistent Memory (PMEM), also known as Non-Volatile Memory (NVM), can deliver higher density and lower cost per bit when compared with DRAM. Its main drawback is that it is typically slower than DRAM. On the other hand, DRAM has…

Machine Learning · Computer Science 2022-11-07 Diego Moura , Vinicius Petrucci , Daniel Mosse

DNA storage is now being considered as a new archival storage method for its durability and high information density, but still facing some challenges like high costs and low throughput. By reducing sequencing sample size for decoding…

Information Theory · Computer Science 2025-04-22 Ruiying Cao , Xin Chen

Genomics is changing our understanding of humans, evolution, diseases, and medicines to name but a few. As sequencing technology is developed collecting DNA sequences takes less time thereby generating more genetic data every day. Today the…

Quantitative Methods · Quantitative Biology 2020-07-29 Sahand Salamat , Tajana Rosing

The genome sequence contains the blueprint for governing cellular processes. While the availability of genomes has vastly increased over the last decades, experimental annotation of the various functional, non-coding and regulatory elements…

Genomics · Quantitative Biology 2024-04-10 Frederikke Isa Marin , Felix Teufel , Marc Horlacher , Dennis Madsen , Dennis Pultz , Ole Winther , Wouter Boomsma

Modeling genomic sequences faces two unsolved challenges: the information density varies widely across different regions, while there is no clearly defined minimum vocabulary unit. Relying on either four primitive bases or independently…

Genomics · Quantitative Biology 2025-11-20 Siyuan Li , Kai Yu , Anna Wang , Zicheng Liu , Chang Yu , Jingbo Zhou , Qirong Yang , Yucheng Guo , Xiaoming Zhang , Stan Z. Li

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

Nanopore sequencing is an emerging new technology for sequencing DNA, which can read long fragments of DNA (~50,000 bases) in contrast to most current short-read sequencing technologies which can only read hundreds of bases. While nanopore…

Information Theory · Computer Science 2018-02-20 Wei Mao , Suhas Diggavi , Sreeram Kannan

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…

Statistical Mechanics · Physics 2024-03-12 L. A. Fernandez , V. Martin-Mayor , D. Yllanes

Genetic information is encoded in a linear sequence of nucleotides, represented by letters ranging from thousands to billions. Mutations refer to changes in the DNA or RNA nucleotide sequence. Thus, mutation detection is vital in all areas…

With the increasing affordability and accessibility of genome sequencing data, de novo genome assembly is an important first step to a wide variety of downstream studies and analyses. Therefore, bioinformatics tools that enable the…

Genomics · Quantitative Biology 2023-06-09 Lauren Coombe , René L. Warren , Johnathan Wong , Vladimir Nikolic , Inanc Birol

Graph neural networks (GNNs) have gained significant interest for applications such as citation network analysis and drug discovery due to their ability to apply machine learning techniques on graph-structured data. GNNs typically employ a…

Hardware Architecture · Computer Science 2026-05-28 Siddhartha Raman Sundara Raman , Lizy John , Jaydeep P. Kulkarni

The advent of high-throughput sequencing technologies constituted a major advance in genomic studies, offering new prospects in a wide range of applications. We propose a rigorous and flexible algorithmic solution to mapping SOLiD…

Quantitative Methods · Quantitative Biology 2011-01-18 Laurent Noé , Marta L. Gîrdea , Gregory Kucherov

Deep Generative models (DGMs) play two key roles in modern machine learning: (i) producing new information (e.g., image synthesis) and (ii) reducing dimensionality. However, traditional architectures often rely on auxiliary networks such as…

Machine Learning · Computer Science 2026-02-23 Georgi Hrusanov , Oliver Y. Chén , Julien S. Bodelet

Third-generation nanopore sequencers offer a feature called selective sequencing or 'Read Until' that allows genomic reads to be analyzed in real-time and abandoned halfway, if not belonging to a genomic region of 'interest'. This selective…

Hardware Architecture · Computer Science 2022-11-15 Po Jui Shih , Hassaan Saadat , Sri Parameswaran , Hasindu Gamaarachchi