Main findings and advances in bioinformatics and biomedical engineeringIWBBIO 2018

We want to thank the great work done by the reviewers of each of the papers, together with the great interest shown by the editorial of BMC Bioinformatics in IWBBIO Conference. Special thanks to D. Omar El Bakry for his interest and great help to make this Special Issue. Thank the Ministry of Spain for the economic resources within the project with reference RTI2018-101674-B-I00.In the current supplement, we are proud to present seventeen relevant contributions from the 6th International Work-Conference on Bioinformatics and Biomedical Engineering (IWBBIO 2018), which was held during April 25-27, 2018 in Granada (Spain). These contributions have been chosen because of their quality and the importance of their findings.This research has been partially supported by the proyects with reference RTI2018-101674-B-I00 (Ministry of Spain) and B-TIC-414-UGR18 (FEDER, Junta Andalucia and UGR)

Multi-Head Graph Convolutional Network for Structural Connectome Classification

We tackle classification based on brain connectivity derived from diffusion magnetic resonance images. We propose a machine-learning model inspired by graph convolutional networks (GCNs), which takes a brain connectivity input graph and processes the data separately through a parallel GCN mechanism with multiple heads. The proposed network is a simple design that employs different heads involving graph convolutions focused on edges and nodes, capturing representations from the input data thoroughly. To test the ability of our model to extract complementary and representative features from brain connectivity data, we chose the task of sex classification. This quantifies the degree to which the connectome varies depending on the sex, which is important for improving our understanding of health and disease in both sexes. We show experiments on two publicly available datasets: PREVENT-AD (347 subjects) and OASIS3 (771 subjects). The proposed model demonstrates the highest performance compared to the existing machine-learning algorithms we tested, including classical methods and (graph and non-graph) deep learning. We provide a detailed analysis of each component of our model

Machine Learning Approaches for Identifying Cancer Biomarkers Using Next Generation Sequencing

Identifying biomarkers that can be used to classify certain disease stages or predict when a disease becomes more aggressive is one of the most important applications of machine learning. Next generation sequencing (NGS) is a state-of-the-art method that enables fast sequencing of DNA or RNA samples. The output usually contains a very large file that consists of base pairs of DNA or RNA. The generated data can be analyzed to provide gene expression, chromosome counting, detection of mutations on the genes, and detecting levels of copy number variations or alterations in specific genes, just as examples. NGS is leading the way to explore the human genome, enabling the future of personalized medicine. In this thesis, a demonstration is done on how machine learning is used extensively to identify genes that can be used to predict prostate cancer stages with very high accuracy, using gene expression. We have also been successful in predicting the location of prostate tumors based on gene expression. In addition, traditional biomarker identification approaches, typically, use machine learning techniques to identify a number of genes and macromolecules as biomarkers that can be used to diagnose specific diseases or states of diseases with very high accuracy, using molecular measurements such as mutations, gene expression, copy number variations, and others. However, experts\u27 opinions and knowledge is required to validate such findings. We, therefore, also introduce a new machine learning model that incorporates a knowledge-assisted system used to integrate the findings of the DisGeNET database, which is a framework that contains proven relationships among diseases and genes. The machine learning pipeline starts by reducing the number of features using a filter-based feature selection method. The DisGeNET database is used to score each gene related to the given cancer name. Then, a wrapper-based feature-selection algorithm picks the best set of genes with the highest classification accuracy. The method has been able to retrieve key genes from multiple data sets that classify with very high accuracy, while being biologically relevant, and no human intervention needed. Initial results provide a high area-under-the-curve with a handful of genes that are already proven to be related to the relevant disease and state based on the latest published medical findings. The proposed methods results provide biomarkers that can be verified in wet lab environments and can then be further analyzed and studied for diagnostic purposes

Towards a cascading reasoning framework to support responsive ambient-intelligent healthcare interventions

In hospitals and smart nursing homes, ambient-intelligent care rooms are equipped with many sensors. They can monitor environmental and body parameters, and detect wearable devices of patients and nurses. Hence, they continuously produce data streams. This offers the opportunity to collect, integrate and interpret this data in a context-aware manner, with a focus on reactivity and autonomy. However, doing this in real time on huge data streams is a challenging task. In this context, cascading reasoning is an emerging research approach that exploits the trade-off between reasoning complexity and data velocity by constructing a processing hierarchy of reasoners. Therefore, a cascading reasoning framework is proposed in this paper. A generic architecture is presented allowing to create a pipeline of reasoning components hosted locally, in the edge of the network, and in the cloud. The architecture is implemented on a pervasive health use case, where medically diagnosed patients are constantly monitored, and alarming situations can be detected and reacted upon in a context-aware manner. A performance evaluation shows that the total system latency is mostly lower than 5 s, allowing for responsive intervention by a nurse in alarming situations. Using the evaluation results, the benefits of cascading reasoning for healthcare are analyzed

Design and implementation of advanced sensor systems for smart robotic wheelchairs: A review

Smart robotic wheelchairs have emerged as promising assistive devices to enhance mobility and independence for individuals with mobility impairments. The successful integration of advanced sensor systems plays a critical role in improving the functionality and safety of these wheelchairs. This paper presents a comprehensive review of the design and implementation of advanced sensor systems for smart robotic wheelchairs. Through an extensive literature review, the limitations of existing sensor technologies are identified, and the potential of advanced sensors is explored. Vision-based sensors, range and proximity sensors, force and pressure sensors, inertial sensors, and environmental sensors are discussed in detail. Furthermore, this review highlights the design considerations, hardware components, software development, and calibration procedures involved in implementing advanced sensor systems. Evaluation and performance analysis metrics are discussed to assess the effectiveness of the sensor systems. The research findings indicate that advanced sensor systems have the potential to significantly enhance the functionality and safety of smart robotic wheelchairs. However, challenges such as sensor integration, data fusion, and user feedback must be addressed. This review paper concludes by discussing the implications of advanced sensor systems in improving wheelchair functionality and user experience, and proposes future directions for research in this domain

Big Data Analytics for Complex Systems

The evolution of technology in all fields led to the generation of vast amounts of data by modern systems. Using data to extract information, make predictions, and make decisions is the current trend in artificial intelligence. The advancement of big data analytics tools made accessing and storing data easier and faster than ever, and machine learning algorithms help to identify patterns in and extract information from data. The current tools and machines in health, computer technologies, and manufacturing can generate massive raw data about their products or samples. The author of this work proposes a modern integrative system that can utilize big data analytics, machine learning, super-computer resources, and industrial health machines’ measurements to build a smart system that can mimic the human intelligence skills of observations, detection, prediction, and decision-making. The applications of the proposed smart systems are included as case studies to highlight the contributions of each system. The first contribution is the ability to utilize big data revolutionary and deep learning technologies on production lines to diagnose incidents and take proper action. In the current digital transformational industrial era, Industry 4.0 has been receiving researcher attention because it can be used to automate production-line decisions. Reconfigurable manufacturing systems (RMS) have been widely used to reduce the setup cost of restructuring production lines. However, the current RMS modules are not linked to the cloud for online decision-making to take the proper decision; these modules must connect to an online server (super-computer) that has big data analytics and machine learning capabilities. The online means that data is centralized on cloud (supercomputer) and accessible in real-time. In this study, deep neural networks are utilized to detect the decisive features of a product and build a prediction model in which the iFactory will make the necessary decision for the defective products. The Spark ecosystem is used to manage the access, processing, and storing of the big data streaming. This contribution is implemented as a closed cycle, which for the best of our knowledge, no one in the literature has introduced big data analysis using deep learning on real-time applications in the manufacturing system. The code shows a high accuracy of 97% for classifying the normal versus defective items. The second contribution, which is in Bioinformatics, is the ability to build supervised machine learning approaches based on the gene expression of patients to predict proper treatment for breast cancer. In the trial, to personalize treatment, the machine learns the genes that are active in the patient cohort with a five-year survival period. The initial condition here is that each group must only undergo one specific treatment. After learning about each group (or class), the machine can personalize the treatment of a new patient by diagnosing the patients’ gene expression. The proposed model will help in the diagnosis and treatment of the patient. The future work in this area involves building a protein-protein interaction network with the selected genes for each treatment to first analyze the motives of the genes and target them with the proper drug molecules. In the learning phase, a couple of feature-selection techniques and supervised standard classifiers are used to build the prediction model. Most of the nodes show a high-performance measurement where accuracy, sensitivity, specificity, and F-measure ranges around 100%. The third contribution is the ability to build semi-supervised learning for the breast cancer survival treatment that advances the second contribution. By understanding the relations between the classes, we can design the machine learning phase based on the similarities between classes. In the proposed research, the researcher used the Euclidean matrix distance among each survival treatment class to build the hierarchical learning model. The distance information that is learned through a non-supervised approach can help the prediction model to select the classes that are away from each other to maximize the distance between classes and gain wider class groups. The performance measurement of this approach shows a slight improvement from the second model. However, this model reduced the number of discriminative genes from 47 to 37. The model in the second contribution studies each class individually while this model focuses on the relationships between the classes and uses this information in the learning phase. Hierarchical clustering is completed to draw the borders between groups of classes before building the classification models. Several distance measurements are tested to identify the best linkages between classes. Most of the nodes show a high-performance measurement where accuracy, sensitivity, specificity, and F-measure ranges from 90% to 100%. All the case study models showed high-performance measurements in the prediction phase. These modern models can be replicated for different problems within different domains. The comprehensive models of the newer technologies are reconfigurable and modular; any newer learning phase can be plugged-in at both ends of the learning phase. Therefore, the output of the system can be an input for another learning system, and a newer feature can be added to the input to be considered for the learning phase