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Needle Electromyography, in combination with nerve conduction studies, is the gold standard methodology for assessing the neurophysiologic effects of neuromuscular diseases. Muscle categorization is typically based on visual and auditory assessment of the morphology and activation patterns of its constituent motor units. A procedure which is highly dependent on the skills and level of experience of...
One of the main goals of genome wide association studies (GWAS) has been detecting gene-gene interactions, also known as epistasis in a broad sense, underlying complex diseases. However, high dimensionalities of genotype data and exponential complexity of the search space with respect to the order of targeted interactions make most of existing interaction detection strategies practically inapplicable...
Binary classifiers have typically been the norm for building classification models in the Machine Learning community. However, an alternate to binary classification is one-class classification, which aims to build models using only a single class of data. This is particularly useful when there is an over-abundance of data of a particular class. In such imbalanced cases, binary classifiers may not...
This paper proposes a method which is suitable for the estimation of the probability of occurrence of a syndrome, as a function of the geographical coordinates of the individuals under risk. The data describing the location of syndrome cases over the population suffers a moving-average filtering, and the resulting values are fitted by an RBF network performing a regression. Some contour curves of...
In the clinical diagnosis of facial dysmorphology, geneticists attempt to identify the underlying syndromes by associating facial features before cyto or molecular techniques are explored. Specifying genotype-phenotype correlations correctly among many syndromes is labor intensive especially for very rare diseases. The use of a computer based prediagnosis system can offer effective decision support...
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