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Bioinformatics research is characterized by voluminous and incremental datasets and complex data analytics methods. The machine learning methods used in bioinformatics are iterative and parallel. These methods can be scaled to handle big…

Computational Engineering, Finance, and Science · Computer Science 2015-06-17 Hirak Kashyap , Hasin Afzal Ahmed , Nazrul Hoque , Swarup Roy , Dhruba Kumar Bhattacharyya

Novel technologies in genomics allow creating data in exascale dimension with relatively minor effort of human and laboratory and thus monetary resources compared to capabilities only a decade ago. While the availability of this data…

Distributed, Parallel, and Cluster Computing · Computer Science 2015-11-10 Sandra Gesing , Thomas Richard Connor , Ian Taylor

In recent years, we have witnessed a dramatic data explosion in genomics, thanks to the improvement in sequencing technologies and the drastically decreasing costs. We are entering the era of millions of available genomes. Notably, each…

Other Quantitative Biology · Quantitative Biology 2018-03-28 Ka-Chun Wong

Today's sequencing technology allows sequencing an individual genome within a few weeks for a fraction of the costs of the original Human Genome project. Genomics labs are faced with dozens of TB of data per week that have to be…

Databases · Computer Science 2009-09-15 Uwe Roehm , Jose Blakeley

Big Data works perfectly along with Deep learning to extract knowledge from a huge amount of data. However, this processing could take a lot of training time. Genomics is a Big Data science with high dimensionality. It relies on deep…

Neural and Evolutionary Computing · Computer Science 2024-05-28 Tasnim Assali , Zayneb Trabelsi Ayoub , Sofiane Ouni

High-throughput sequencing (HTS) technologies have revolutionized the field of genomics, enabling rapid and cost-effective genome analysis for various applications. However, the increasing volume of genomic data generated by HTS…

Hardware Architecture · Computer Science 2023-06-01 Onur Mutlu , Can Firtina

Deep learning and other big data technologies have over time become very powerful and accurate. There are algorithms and models developed that have near human accuracy in their task. In health care, the amount of data available is massive…

Computers and Society · Computer Science 2019-09-09 Dinesh Samuel Sathia Raj , Vijayakumar V , Bharat Rawal , Longzhi Yang

Advancements in genomic research such as high-throughput sequencing techniques have driven modern genomic studies into "big data" disciplines. This data explosion is constantly challenging conventional methods used in genomics. In parallel…

Genomics · Quantitative Biology 2023-10-06 Tianwei Yue , Yuanxin Wang , Longxiang Zhang , Chunming Gu , Haoru Xue , Wenping Wang , Qi Lyu , Yujie Dun

Next Generation Sequencing (NGS) technology has resulted in massive amounts of proteomics and genomics data. This data is of no use if it is not properly analyzed. ETL (Extraction, Transformation, Loading) is an important step in designing…

Databases · Computer Science 2017-07-25 Shahzad Ahmed , M. Usman Ali , Javed Ferzund , Muhammad Atif Sarwar , Abbas Rehman , Atif Mehmood

Current metagenomic analysis algorithms require significant computing resources, can report excessive false positives (type I errors), may miss organisms (type II errors / false negatives), or scale poorly on large datasets. This paper…

Databases · Computer Science 2015-01-23 Ashley Mae Conard , Stephanie Dodson , Jeremy Kepner , Darrell Ricke

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…

This paper reviews strategies for solving problems encountered when analyzing large genomic data sets and describes the implementation of those strategies in R by packages from the Bioconductor project. We treat the scalable processing,…

Genomics · Quantitative Biology 2014-09-11 Michael Lawrence , Martin Morgan

Many of the current scientific advances in the life sciences have their origin in the intensive use of data for knowledge discovery. In no area this is so clear as in bioinformatics, led by technological breakthroughs in data acquisition…

Machine Learning · Computer Science 2018-02-28 Davide Bacciu , Paulo J. G. Lisboa , José D. Martín , Ruxandra Stoean , Alfredo Vellido

New technologies have enabled the investigation of biology and human health at an unprecedented scale and in multiple dimensions. These dimensions include a myriad of properties describing genome, epigenome, transcriptome, microbiome,…

Quantitative Methods · Quantitative Biology 2018-10-22 Marinka Zitnik , Francis Nguyen , Bo Wang , Jure Leskovec , Anna Goldenberg , Michael M. Hoffman

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…

DNA pattern matching is essential for many widely used bioinformatics applications. Disease diagnosis is one of these applications, since analyzing changes in DNA sequences can increase our understanding of possible genetic diseases. The…

Hardware Architecture · Computer Science 2022-06-01 Jinane Bazzi , Jana Sweidan , Mohammed E. Fouda , Rouwaida Kanj , Ahmed M. Eltawil

The term Big Data is usually used to describe huge amount of data that is generated by humans from digital media such as cameras, internet, phones, sensors etc. By building advanced analytics on the top of big data, one can predict many…

Emerging Technologies · Computer Science 2014-05-19 Shalin Shah , Dixita Limbachiya , Manish K. Gupta

Large Language Models (LLMs) are revolutionizing bioinformatics, enabling advanced analysis of DNA, RNA, proteins, and single-cell data. This survey provides a systematic review of recent advancements, focusing on genomic sequence modeling,…

Computation and Language · Computer Science 2026-03-03 Zhenyu Wang , Zikang Wang , Jiyue Jiang , Pengan Chen , Xiangyu Shi , Yu Li

Advances in data collecting technologies in genomics have significantly increased the need for tools designed to study the genetic basis of many diseases. Effective statistical methods should excel in both prediction accuracy and biomarker…

Methodology · Statistics 2025-11-13 Anthony-Alexander Christidis , Stefan Van Aelst , Ruben Zamar

Large biological datasets are being produced at a rapid pace and create substantial storage challenges, particularly in the domain of high-throughput sequencing (HTS). Most approaches currently used to store HTS data are either unable to…

Quantitative Methods · Quantitative Biology 2014-03-05 Fabien Campagne , Kevin C. Dorff , Nyasha Chambwe , James T. Robinson , Jill P. Mesirov , Thomas D. Wu
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