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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…

Hardware Architecture · Computer Science 2021-11-04 Damla Senol Cali

Genomic data sets are growing dramatically as the cost of sequencing continues to decline and small sequencing devices become available. Enormous community databases store and share this data with the research community, but some of these…

A critical step of genome sequence analysis is the mapping of sequenced DNA fragments (i.e., reads) collected from an individual to a known linear reference genome sequence (i.e., sequence-to-sequence mapping). Recent works replace the…

We now need more than ever to make genome analysis more intelligent. We need to read, analyze, and interpret our genomes not only quickly, but also accurately and efficiently enough to scale the analysis to population level. There currently…

The immense increase in the generation of genomic scale data poses an unmet analytical challenge, due to a lack of established methodology with the required flexibility and power. We propose a first principled approach to statistical…

Computational analysis methods including machine learning have a significant impact in the fields of genomics and medicine. High-throughput gene expression analysis methods such as microarray technology and RNA sequencing produce enormous…

Genomics · Quantitative Biology 2022-09-28 Nikita Bhandari , Rahee Walambe , Ketan Kotecha , Satyajeet Khare

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…

The rapid development of high-throughput sequencing technologies has led to an explosive increase in biological sequence data, making sequence clustering a fundamental task in large-scale bioinformatics analyses. Unlike traditional…

Genomics · Quantitative Biology 2026-01-22 Simeng Zhang , Xinying Liu , Jun Lou , Mudi Jiang , Quan Zou , Zengyou He

Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call…

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

We live in a period where bio-informatics is rapidly expanding, a significant quantity of genomic data has been produced as a result of the advancement of high-throughput genome sequencing technology, raising concerns about the costs…

Quantitative Methods · Quantitative Biology 2023-03-10 Mehedi Hasan Sarkar , Adnan Ferdous Ashrafi

Drug discovery has become a main challenge in our society, following the Covid-19 pandemic. Even pharmaceutical companies are already using computing to accelerate drug discovery. They are increasingly interested in Quantum Computing with a…

Quantum Physics · Physics 2024-02-16 Anthony Chagneau , Yousra Massaoudi , Imene Derbali , Linda Yahiaoui

Advances in genome sequencing technologies generate massive amounts of sequence data that are increasingly analyzed and shared through public repositories. On-demand infrastructure services on cloud computing platforms enable the processing…

Distributed, Parallel, and Cluster Computing · Computer Science 2025-03-20 Junseok Park , Eduardo A. Maury , Changhoon Oh , Donghoon Shin , Danielle Denisko , Eunjung Alice Lee

Despite the availability of various sequence analysis models, comparative genomic analysis remains a challenge in genomics, genetics, and phylogenetics. Commutative algebra, a fundamental tool in algebraic geometry and number theory, has…

Quantitative Methods · Quantitative Biology 2025-08-14 Faisal Suwayyid , Yuta Hozumi , Hongsong Feng , Mushal Zia , JunJie Wee , Guo-Wei Wei

We assess the potential of quantum computing to accelerate computation of central tasks in genomics, focusing on often-neglected theoretical limitations. We discuss state-of-the-art challenges of quantum search, optimization, and machine…

Quantum Physics · Physics 2026-01-09 Aurora Maurizio , Guglielmo Mazzola

The Genomic Foundation Model (GFM) paradigm is expected to facilitate the extraction of generalizable representations from massive genomic data, thereby enabling their application across a spectrum of downstream applications. Despite…

Genomics · Quantitative Biology 2024-06-06 Zicheng Liu , Jiahui Li , Siyuan Li , Zelin Zang , Cheng Tan , Yufei Huang , Yajing Bai , Stan Z. Li

In computational biology and other sciences, researchers are frequently faced with a choice between several computational methods for performing data analyses. Benchmarking studies aim to rigorously compare the performance of different…

Motivation: Modern genomics laboratories generate massive volumes of sequencing data, often resulting in significant storage costs. Genomics storage consists of duplicate files, temporary processing files, and redundant intermediate data.…

Genomics · Quantitative Biology 2025-11-27 Margot Celerie , Andrew Oldfield , William Ritchie

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

Various methods have been developed to analyze the association between organisms and their genomic sequences. Among them, sequence alignment is the most frequently used for comparative analysis of biological genomes. However, the…

Quantitative Methods · Quantitative Biology 2020-10-27 Yong Joon Song , Dong Jin Ji , Hye In Seo , Gyu Bum Han , Dong Ho Cho
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