The rapidly expanding field of big data analytics has started to play a pivotal role in the evolution of healthcare practices and research. It has provided tools to accumulate, manage, analyze, and assimilate large volumes of disparate, structured, and unstructured data produced by current healthcare systems. Big data analytics has been recently applied towards aiding the process of care delivery and disease exploration. However, the adoption rate and research development in this space is still hindered by some fundamental problems inherent within the big data paradigm. In this paper, we discuss some of these major challenges with a focus on three upcoming and promising areas of medical research: image, signal, and genomics based analytics. Recent research which targets utilization of large volumes of medical data while combining multimodal data from disparate sources is discussed. Potential areas of research within this field which have the ability to provide meaningful impact on healthcare delivery are also examined.

Melanoma, most threatening type of skin cancer, is on the rise. In this paper an implementation of a deep-learning system on a computer server, equipped with graphic processing unit (GPU), is proposed for detection of melanoma lesions. Clinical (non-dermoscopic) images are used in the proposed system, which could assist a dermatologist in early diagnosis of this type of skin cancer. In the proposed system, input clinical images, which could contain illumination and noise effects, are preprocessed in order to reduce such artifacts. Afterward, the enhanced images are fed to a pre-trained convolutional neural network (CNN) which is a member of deep learning models. The CNN classifier, which is trained by large number of training samples, distinguishes between melanoma and benign cases. Experimental results show that the proposed method is superior in terms of diagnostic accuracy in comparison with the state-of-the-art methods.

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This Perspective provides examples of current and future applications of deep learning in pharmacogenomics, including: identification of novel regulatory variants located in noncoding domains of the genome and their function as applied to pharmacoepigenomics; patient stratification from medical records; and the mechanistic prediction of drug response, targets and their interactions. Deep learning encapsulates a family of machine learning algorithms that has transformed many important subfields of artificial intelligence over the last decade, and has demonstrated breakthrough performance improvements on a wide range of tasks in biomedicine. We anticipate that in the future, deep learning will be widely used to predict personalized drug response and optimize medication selection and dosing, using knowledge extracted from large and complex molecular, epidemiological, clinical and demographic datasets.

After chronic low back pain, Temporomandibular Joint (TMJ) disorders are the second most common musculoskeletal condition affecting 5 to 12% of the population, with an annual health cost estimated at $4 billion. Chronic disability in TMJ osteoarthritis (OA) increases with aging, and the main goal is to diagnosis before morphological degeneration occurs. Here, we address this challenge using advanced data science to capture, process and analyze 52 clinical, biological and high-resolution CBCT (radiomics) markers from TMJ OA patients and controls. We tested the diagnostic performance of four machine learning models: Logistic Regression, Random Forest, LightGBM, XGBoost. Headaches, Range of mouth opening without pain, Energy, Haralick Correlation, Entropy and interactions of TGF-β1 in Saliva and Headaches, VE-cadherin in Serum and Angiogenin in Saliva, VE-cadherin in Saliva and Headaches, PA1 in Saliva and Headaches, PA1 in Saliva and Range of mouth opening without pain; Gender and Muscle Soreness; Short Run Low Grey Level Emphasis and Headaches, Inverse Difference Moment and Trabecular Separation accurately diagnose early stages of this clinical condition. Our results show the XGBoost + LightGBM model with these features and interactions achieves the accuracy of 0.823, AUC 0.870, and F1-score 0.823 to diagnose the TMJ OA status. Thus, we expect to boost future studies into osteoarthritis patient-specific therapeutic interventions, and thereby improve the health of articular joints.