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Background and Aims: Artificial intelligence (AI)-based applications have transformed several industries and are widely used in various consumer products and services. In medicine, AI is primarily being used for image classification and natural language processing and has great potential to affect image-based specialties such as radiology, pathology, and gastroenterology (GE). This document reviews the reported applications of AI in GE, focusing on endoscopic image analysis., Methods: The MEDLINE database was searched through May 2020 for relevant articles by using key words such as machine learning, deep learning, artificial intelligence, computer-aided diagnosis, convolutional neural networks, GI endoscopy, and endoscopic image analysis. References and citations of the retrieved articles were also evaluated to identify pertinent studies. The manuscript was drafted by 2 authors and reviewed in person by members of the American Society for Gastrointestinal Endoscopy Technology Committee and subsequently by the American Society for Gastrointestinal Endoscopy Governing Board., Results: Deep learning techniques such as convolutional neural networks have been used in several areas of GI endoscopy, including colorectal polyp detection and classification, analysis of endoscopic images for diagnosis of Helicobacter pylori infection, detection and depth assessment of early gastric cancer, dysplasia in Barrett's esophagus, and detection of various abnormalities in wireless capsule endoscopy images., Conclusions: The implementation of AI technologies across multiple GI endoscopic applications has the potential to transform clinical practice favorably and improve the efficiency and accuracy of current diagnostic methods., (© 2020 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc.)

In the past few years, deep learning has been successfully applied to various omics data. However, the applications of deep learning in metabolomics are still relatively low compared to others omics. Currently, data pre-processing using convolutional neural network architecture appears to benefit the most from deep learning. Compound/structure identification and quantification using artificial neural network/deep learning performed relatively better than traditional machine learning techniques, whereas only marginally better results are observed in biological interpretations. Before deep learning can be effectively applied to metabolomics, several challenges should be addressed, including metabolome-specific deep learning architectures, dimensionality problems, and model evaluation regimes., (© 2020 The Author(s).)

Artificial intelligence (AI) and machine learning have significantly influenced many facets of the healthcare sector. Advancement in technology has paved the way for analysis of big datasets in a cost- and time-effective manner. Clinical oncology and research are reaping the benefits of AI. The burden of cancer is a global phenomenon. Efforts to reduce mortality rates requires early diagnosis for effective therapeutic interventions. However, metastatic and recurrent cancers evolve and acquire drug resistance. It is imperative to detect novel biomarkers that induce drug resistance and identify therapeutic targets to enhance treatment regimes. The introduction of the next generation sequencing (NGS) platforms address these demands, has revolutionised the future of precision oncology. NGS offers several clinical applications that are important for risk predictor, early detection of disease, diagnosis by sequencing and medical imaging, accurate prognosis, biomarker identification and identification of therapeutic targets for novel drug discovery. NGS generates large datasets that demand specialised bioinformatics resources to analyse the data that is relevant and clinically significant. Through these applications of AI, cancer diagnostics and prognostic prediction are enhanced with NGS and medical imaging that delivers high resolution images. Regardless of the improvements in technology, AI has some challenges and limitations, and the clinical application of NGS remains to be validated. By continuing to enhance the progression of innovation and technology, the future of AI and precision oncology show great promise., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2020 The Author(s).)

Machine learning (ML) is largely used to develop automatic predictors in migraine classification but automatic predictors for medication overuse (MO) in migraine are still in their infancy. Thus, to understand the benefits of ML in MO prediction, we explored an automated predictor to estimate MO risk in migraine. To achieve this objective, a study was designed to analyze the performance of a customized ML-based decision support system that combines support vector machines and Random Optimization (RO-MO). We used RO-MO to extract prognostic information from demographic, clinical and biochemical data. Using a dataset of 777 consecutive migraine patients we derived a set of predictors with discriminatory power for MO higher than that observed for baseline SVM. The best four were incorporated into the final RO-MO decision support system and risk evaluation on a five-level stratification was performed. ROC analysis resulted in a c-statistic of 0.83 with a sensitivity and specificity of 0.69 and 0.87, respectively, and an accuracy of 0.87 when MO was predicted by at least three RO-MO models. Logistic regression analysis confirmed that the derived RO-MO system could effectively predict MO with ORs of 5.7 and 21.0 for patients classified as probably (3 predictors positive), or definitely at risk of MO (4 predictors positive), respectively. In conclusion, a combination of ML and RO - taking into consideration clinical/biochemical features, drug exposure and lifestyle - might represent a valuable approach to MO prediction in migraine and holds the potential for improving model precision through weighting the relative importance of attributes., Competing Interests: Piero Barbanti has received consultancy fees from Allergan, Bayer, electroCore, Lusofarmaco, Merck, Visufarma, and advisory fees from TEVA, Novartis and Eli-Lilly. Gabriella Egeo received travel grants and honoraria from Eli-Lilly, Novartis, New Penta and Ecupharma; Luisa Fofi received travel grants and honoraria from Teva, Eli-Lilly and Novartis; Patrizia Ferroni, Fabio M. Zanzotto, Noemi Scarpato, Antonella Spila, Alessandro Rullo, Raffaele Palmirotta and Fiorella Guadagni report no conflict of interest., (© 2020 The Author(s).)

Background: The accurate identification of the exon/intron boundaries is critical for the correct annotation of genes with multiple exons. Donor and acceptor splice sites (SS) demarcate these boundaries. Therefore, deriving accurate computational models to predict the SS are useful for functional annotation of genes and genomes, and for finding alternative SS associated with different diseases. Although various models have been proposed for the in silico prediction of SS, improving their accuracy is required for reliable annotation. Moreover, models are often derived and tested using the same genome, providing no evidence of broad application, i.e. to other poorly studied genomes., Results: With this in mind, we developed the Splice2Deep models for SS detection. Each model is an ensemble of deep convolutional neural networks. We evaluated the performance of the models based on the ability to detect SS in Homo sapiens , Oryza sativa japonica , Arabidopsis thaliana , Drosophila melanogaster , and Caenorhabditis elegans . Results demonstrate that the models efficiently detect SS in other organisms not considered during the training of the models. Compared to the state-of-the-art tools, Splice2Deep models achieved significantly reduced average error rates of 41.97% and 28.51% for acceptor and donor SS, respectively. Moreover, the Splice2Deep cross-organism validation demonstrates that models correctly identify conserved genomic elements enabling annotation of SS in new genomes by choosing the taxonomically closest model., Conclusions: The results of our study demonstrated that Splice2Deep both achieved a considerably reduced error rate compared to other state-of-the-art models and the ability to accurately recognize SS in other organisms for which the model was not trained, enabling annotation of poorly studied or newly sequenced genomes. Splice2Deep models are implemented in Python using Keras API; the models and the data are available at https://github.com/SomayahAlbaradei/Splice_Deep.git., Competing Interests: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests., (© 2020 Published by Elsevier B.V.)

Nanotechnology has enabled the discovery of a multitude of novel materials exhibiting unique physicochemical (PChem) properties compared to their bulk analogues. These properties have led to a rapidly increasing range of commercial applications; this, however, may come at a cost, if an association to long-term health and environmental risks is discovered or even just perceived. Many nanomaterials (NMs) have not yet had their potential adverse biological effects fully assessed, due to costs and time constraints associated with the experimental assessment, frequently involving animals. Here, the available NM libraries are analyzed for their suitability for integration with novel nanoinformatics approaches and for the development of NM specific Integrated Approaches to Testing and Assessment (IATA) for human and environmental risk assessment, all within the NanoSolveIT cloud-platform. These established and well-characterized NM libraries (e.g. NanoMILE, NanoSolutions, NANoREG, NanoFASE, caLIBRAte, NanoTEST and the Nanomaterial Registry (>2000 NMs)) contain physicochemical characterization data as well as data for several relevant biological endpoints, assessed in part using harmonized Organisation for Economic Co-operation and Development (OECD) methods and test guidelines. Integration of such extensive NM information sources with the latest nanoinformatics methods will allow NanoSolveIT to model the relationships between NM structure (morphology), properties and their adverse effects and to predict the effects of other NMs for which less data is available. The project specifically addresses the needs of regulatory agencies and industry to effectively and rapidly evaluate the exposure, NM hazard and risk from nanomaterials and nano-enabled products, enabling implementation of computational 'safe-by-design' approaches to facilitate NM commercialization., (© 2020 The Authors.)

Due to the unprecedented public health crisis caused by COVID-19, our first contribution to the newly launching journal, Advances in Biomarker Sciences and Technology , has abruptly diverted to focus on the current pandemic. As the number of new COVID-19 cases and deaths continue to rise steadily around the world, the common goal of healthcare providers, scientists, and government officials worldwide has been to identify the best way to detect the novel coronavirus, named SARS-CoV-2, and to treat the viral infection - COVID-19. Accurate detection, timely diagnosis, effective treatment, and future prevention are the vital keys to management of COVID-19, and can help curb the viral spread. Traditionally, biomarkers play a pivotal role in the early detection of disease etiology, diagnosis, treatment and prognosis. To assist myriad ongoing investigations and innovations, we developed this current article to overview known and emerging biomarkers for SARS-CoV-2 detection, COVID-19 diagnostics, treatment and prognosis, and ongoing work to identify and develop more biomarkers for new drugs and vaccines. Moreover, biomarkers of socio-psychological stress, the high-technology quest for new virtual drug screening, and digital applications are described., Competing Interests: The authors declare that they have no potential conflict of interest., (© 2020 Published by Elsevier B.V. on behalf of KeAi Communications Co., Ltd.)

The identification of human-virus protein-protein interactions (PPIs) is an essential and challenging research topic, potentially providing a mechanistic understanding of viral infection. Given that the experimental determination of human-virus PPIs is time-consuming and labor-intensive, computational methods are playing an important role in providing testable hypotheses, complementing the determination of large-scale interactome between species. In this work, we applied an unsupervised sequence embedding technique (doc2vec) to represent protein sequences as rich feature vectors of low dimensionality. Training a Random Forest (RF) classifier through a training dataset that covers known PPIs between human and all viruses, we obtained excellent predictive accuracy outperforming various combinations of machine learning algorithms and commonly-used sequence encoding schemes. Rigorous comparison with three existing human-virus PPI prediction methods, our proposed computational framework further provided very competitive and promising performance, suggesting that the doc2vec encoding scheme effectively captures context information of protein sequences, pertaining to corresponding protein-protein interactions. Our approach is freely accessible through our web server as part of our host-pathogen PPI prediction platform (http://zzdlab.com/InterSPPI/). Taken together, we hope the current work not only contributes a useful predictor to accelerate the exploration of human-virus PPIs, but also provides some meaningful insights into human-virus relationships., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2019 The Authors.)

Background: Machine learning (ML) is the application of specialized algorithms to datasets for trend delineation, categorization, or prediction. ML techniques have been traditionally applied to large, highly dimensional databases. Gliomas are a heterogeneous group of primary brain tumors, traditionally graded using histopathologic features. Recently, the World Health Organization proposed a novel grading system for gliomas incorporating molecular characteristics. We aimed to study whether ML could achieve accurate prognostication of 2-year mortality in a small, highly dimensional database of patients with glioma., Methods: We applied 3 ML techniques (artificial neural networks [ANNs], decision trees [DTs], and support vector machines [SVMs]) and classical logistic regression (LR) to a dataset consisting of 76 patients with glioma of all grades. We compared the effect of applying the algorithms to the raw database versus a database where only statistically significant features were included into the algorithmic inputs (feature selection)., Results: Raw input consisted of 21 variables and achieved performance of accuracy/area (C.I.) under the curve of 70.7%/0.70 (49.9-88.5) for ANN, 68%/0.72 (53.4-90.4) for SVM, 66.7%/0.64 (43.6-85.0) for LR, and 65%/0.70 (51.6-89.5) for DT. Feature selected input consisted of 14 variables and achieved performance of 73.4%/0.75 (62.9-87.9) for ANN, 73.3%/0.74 (62.1-87.4) for SVM, 69.3%/0.73 (60.0-85.8) for LR, and 65.2%/0.63 (49.1-76.9) for DT., Conclusions: We demonstrate that these techniques can also be applied to small, highly dimensional datasets. Our ML techniques achieved reasonable performance compared with similar studies in the literature. Although local databases may be small versus larger cancer repositories, we demonstrate that ML techniques can still be applied to their analysis; however, traditional statistical methods are of similar benefit.

Background: Machine learning techniques such as support vector machine (SVM) have been applied recently in order to accurately classify individuals with neuropsychiatric disorders such as Alzheimer's disease (AD) based on neuroimaging data. However, the multivariate nature of the SVM approach often precludes the identification of the brain regions that contribute most to classification accuracy. Multiple kernel learning (MKL) is a sparse machine learning method that allows the identification of the most relevant sources for the classification. By parcelating the brain into regions of interest (ROI) it is possible to use each ROI as a source to MKL (ROI-MKL)., Methods: We applied MKL to multimodal neuroimaging data in order to: 1) compare the diagnostic performance of ROI-MKL and whole-brain SVM in discriminating patients with AD from demographically matched healthy controls and 2) identify the most relevant brain regions to the classification. We used two atlases (AAL and Brodmann's) to parcelate the brain into ROIs and applied ROI-MKL to structural (T1) MRI, 18 F-FDG-PET and regional cerebral blood flow SPECT (rCBF-SPECT) data acquired from the same subjects (20 patients with early AD and 18 controls). In ROI-MKL, each ROI received a weight (ROI-weight) that indicated the region's relevance to the classification. For each ROI, we also calculated whether there was a predominance of voxels indicating decreased or increased regional activity (for 18 F-FDG-PET and rCBF-SPECT) or volume (for T1-MRI) in AD patients., Results: Compared to whole-brain SVM, the ROI-MKL approach resulted in better accuracies (with either atlas) for classification using 18 F-FDG-PET (92.5% accuracy for ROI-MKL versus 84% for whole-brain), but not when using rCBF-SPECT or T1-MRI. Although several cortical and subcortical regions contributed to discrimination, high ROI-weights and predominance of hypometabolism and atrophy were identified specially in medial parietal and temporo-limbic cortical regions. Also, the weight of discrimination due to a pattern of increased voxel-weight values in AD individuals was surprisingly high (ranging from approximately 20% to 40% depending on the imaging modality), located mainly in primary sensorimotor and visual cortices and subcortical nuclei., Conclusion: The MKL-ROI approach highlights the high discriminative weight of a subset of brain regions of known relevance to AD, the selection of which contributes to increased classification accuracy when applied to 18 F-FDG-PET data. Moreover, the MKL-ROI approach demonstrates that brain regions typically spared in mild stages of AD also contribute substantially in the individual discrimination of AD patients from controls.

Cancer has been characterized as a heterogeneous disease consisting of many different subtypes. The early diagnosis and prognosis of a cancer type have become a necessity in cancer research, as it can facilitate the subsequent clinical management of patients. The importance of classifying cancer patients into high or low risk groups has led many research teams, from the biomedical and the bioinformatics field, to study the application of machine learning (ML) methods. Therefore, these techniques have been utilized as an aim to model the progression and treatment of cancerous conditions. In addition, the ability of ML tools to detect key features from complex datasets reveals their importance. A variety of these techniques, including Artificial Neural Networks (ANNs), Bayesian Networks (BNs), Support Vector Machines (SVMs) and Decision Trees (DTs) have been widely applied in cancer research for the development of predictive models, resulting in effective and accurate decision making. Even though it is evident that the use of ML methods can improve our understanding of cancer progression, an appropriate level of validation is needed in order for these methods to be considered in the everyday clinical practice. In this work, we present a review of recent ML approaches employed in the modeling of cancer progression. The predictive models discussed here are based on various supervised ML techniques as well as on different input features and data samples. Given the growing trend on the application of ML methods in cancer research, we present here the most recent publications that employ these techniques as an aim to model cancer risk or patient outcomes.