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      DeepGSR: an optimized deep-learning structure for the recognition of genomic signals and regions

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          Abstract

          Motivation

          Recognition of different genomic signals and regions (GSRs) in DNA is crucial for understanding genome organization, gene regulation, and gene function, which in turn generate better genome and gene annotations. Although many methods have been developed to recognize GSRs, their pure computational identification remains challenging. Moreover, various GSRs usually require a specialized set of features for developing robust recognition models. Recently, deep-learning (DL) methods have been shown to generate more accurate prediction models than ‘shallow’ methods without the need to develop specialized features for the problems in question. Here, we explore the potential use of DL for the recognition of GSRs.

          Results

          We developed DeepGSR, an optimized DL architecture for the prediction of different types of GSRs. The performance of the DeepGSR structure is evaluated on the recognition of polyadenylation signals (PAS) and translation initiation sites (TIS) of different organisms: human, mouse, bovine and fruit fly. The results show that DeepGSR outperformed the state-of-the-art methods, reducing the classification error rate of the PAS and TIS prediction in the human genome by up to 29% and 86%, respectively. Moreover, the cross-organisms and genome-wide analyses we performed, confirmed the robustness of DeepGSR and provided new insights into the conservation of examined GSRs across species.

          Availability and implementation

          DeepGSR is implemented in Python using Keras API; it is available as open-source software and can be obtained at https://doi.org/10.5281/zenodo.1117159.

          Supplementary information

          Supplementary data are available at Bioinformatics online.

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          Most cited references34

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          Dropout: a simple way to prevent neural networks from overfitting

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            Deep learning in bioinformatics.

            In the era of big data, transformation of biomedical big data into valuable knowledge has been one of the most important challenges in bioinformatics. Deep learning has advanced rapidly since the early 2000s and now demonstrates state-of-the-art performance in various fields. Accordingly, application of deep learning in bioinformatics to gain insight from data has been emphasized in both academia and industry. Here, we review deep learning in bioinformatics, presenting examples of current research. To provide a useful and comprehensive perspective, we categorize research both by the bioinformatics domain (i.e. omics, biomedical imaging, biomedical signal processing) and deep learning architecture (i.e. deep neural networks, convolutional neural networks, recurrent neural networks, emergent architectures) and present brief descriptions of each study. Additionally, we discuss theoretical and practical issues of deep learning in bioinformatics and suggest future research directions. We believe that this review will provide valuable insights and serve as a starting point for researchers to apply deep learning approaches in their bioinformatics studies.
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              Big Data Deep Learning: Challenges and Perspectives

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                Author and article information

                Contributors
                Role: Associate Editor
                Journal
                Bioinformatics
                Bioinformatics
                bioinformatics
                Bioinformatics
                Oxford University Press
                1367-4803
                1367-4811
                01 April 2019
                01 September 2018
                01 September 2018
                : 35
                : 7
                : 1125-1132
                Affiliations
                [1 ]Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
                [2 ]Faculty of Computing and Information Technology, King Abdulaziz University, Jeddah, Saudi Arabia
                [3 ]Drilling Technology Team, EXPEC-ARC, Saudi Aramco, Dhahran, Saudi Arabia
                Author notes
                To whom correspondence should be addressed. vladimir.bajic@ 123456kaust.edu.sa
                Author information
                http://orcid.org/0000-0002-9820-4129
                http://orcid.org/0000-0001-5435-4750
                Article
                bty752
                10.1093/bioinformatics/bty752
                6449759
                30184052
                4fd4a381-255c-4ed7-9fb2-1450f06710e0
                © The Author(s) 2018. Published by Oxford University Press.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

                History
                : 21 December 2017
                : 15 July 2018
                : 31 August 2018
                Page count
                Pages: 8
                Funding
                Funded by: King Abdullah University of Science and Technology 10.13039/501100004052
                Award ID: BAS/1/1606-01-01
                Categories
                Original Papers
                Sequence Analysis

                Bioinformatics & Computational biology
                Bioinformatics & Computational biology

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