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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

In the current world due to the huge demand for storage, DNA-based storage solution sounds quite promising because of their longevity, low power consumption, and high capacity. However in real life storing data in the form of DNA is quite…

Information Theory · Computer Science 2024-04-09 Sanket Doshi , Mihir Gohel , Manish K. Gupta

The UCSC Genome Browser is a popular tool for the exploration and analysis of reference genomes. Mirrors of the UCSC Genome Browser and its contents exist at multiple geographic locations, and this mirror procedure has been modified to…

Genomics · Quantitative Biology 2012-11-29 Vincenzo Forgetta , Ken Dewar

The fall of prices of the high-throughput genome sequencing changes the landscape of modern genomics. A number of large scale projects aimed at sequencing many human genomes are in progress. Genome sequencing also becomes an important aid…

Data Structures and Algorithms · Computer Science 2017-03-03 Sebastian Deorowicz , Agnieszka Danek , Marcin Niemiec

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

To address a looming crisis of unreproducible evaluation for named entity recognition, we propose guidelines and introduce SeqScore, a software package to improve reproducibility. The guidelines we propose are extremely simple and center…

Computation and Language · Computer Science 2021-11-08 Chester Palen-Michel , Nolan Holley , Constantine Lignos

Summary: We develop TaSer (TabAnno and SeqMiner), a toolkit for annotating and querying next generation sequence (NGS) dataset in tab-delimited files. TabAnno is a powerful and efficient command-line tool designed to pre-process sequence…

Computation · Statistics 2013-06-25 Xiaowei Zhan , Dajiang J. Liu

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

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 use of deep learning models in computational biology has increased massively in recent years, and it is expected to continue with the current advances in the fields such as Natural Language Processing. These models, although able to…

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…

Genome sequence analysis, which examines the DNA sequences of organisms, drives advances in many critical medical and biotechnological fields. Given its importance and the exponentially growing volumes of genomic sequence data, there are…

Motivation: Next Generation Sequencing technologies revolutionized many fields in biology by enabling the fast and cheap sequencing of large amounts of genomic data. The ever increasing sequencing capacities enabled by current sequencing…

Genomics · Quantitative Biology 2012-07-24 Himanshu Asnani , Dinesh Bharadia , Mainak Chowdhury , Idoia Ochoa , Itai Sharon , Tsachy Weissman

Summary: Accurate phenotype prediction from genomic sequences is a highly coveted task in biological and medical research. While machine-learning holds the key to accurate prediction in a variety of fields, the complexity of biological data…

Generative AI foundation models offer transformative potential for processing structured biological data, particularly in single-cell RNA sequencing, where datasets are rapidly scaling toward billions of cells. We propose the use of agentic…

Genomics · Quantitative Biology 2025-06-18 Saleem A. Al Dajani , Abel Sanchez , John R. Williams

We present a new method to detect duplicates used to merge different bibliographic record corpora with the help of lexical and social information. As we show, a trivial key is not available to delete useless documents. Merging heteregeneous…

Databases · Computer Science 2015-04-29 Nicolas Turenne

Identifying cell clusters is a critical step for single-cell transcriptomics study. Despite the numerous clustering tools developed recently, the rapid growth of scRNA-seq volumes prompts for a more (computationally) efficient clustering…

Quantitative Methods · Quantitative Biology 2023-01-11 Nana Wei , Yating Nie , Lin Liu , Xiaoqi Zheng , Hua-Jun Wu4

Reproducibility and sustainability present significant challenges in bioinformatics software development, where rapidly evolving tools and complex workflows often result in short-lived or difficult-to-adapt pipelines. This paper introduces…

Software Engineering · Computer Science 2025-05-07 Marco Masera , Alessandro Leone , Johannes Köster , Ivan Molineris

Modern large-scale data-farms consist of hundreds of thousands of storage devices that span distributed infrastructure. Devices used in modern data centers (such as controllers, links, SSD- and HDD-disks) can fail due to hardware as well as…

The task of understanding and interpreting the complex information encoded within genomic sequences remains a grand challenge in biological research and clinical applications. In this context, recent advancements in large language model…

Genomics · Quantitative Biology 2024-09-25 Qihang Zhao , Chi Zhang , Weixiong Zhang