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Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits. So far, the most widely used commercial exome capture reagents have mainly targeted the consensus coding sequence (CCDS) database. We report the design of an extended set of(More)
Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to concerns about genetic heterogeneity for this condition but also suggested the presence of unusual mutational mechanisms. We now present our findings in 181 patients from the United Kingdom with(More)
INTRODUCTION Diastolic dysfunction as demonstrated by tissue Doppler imaging (TDI), particularly E/e' (peak early diastolic transmitral/peak early diastolic mitral annular velocity) is common in critical illness. In septic shock, the prognostic value of TDI is undefined. This study sought to evaluate and compare the prognostic significance of TDI and(More)
BACKGROUND Subtypes of the GABAA receptor subunit exhibit diverse temporal and spatial expression patterns. In silico comparative analysis was used to predict transcriptional regulatory features in individual mammalian GABAA receptor subunit genes, and to identify potential transcriptional regulatory components involved in the coordinate regulation of the(More)
DNA methylation is one of the most studied epigenetic marks in the human genome, with the result that the desire to map the human methylome has driven the development of several methods to map DNA methylation on a genomic scale. Our study presents the first comparison of two of these techniques - the targeted approach of the Infinium HumanMethylation450(More)
DNA methylation is an important mechanism by which gene transcription and hence cellular function are regulated. Here, we provide detailed functional genome-wide methylome maps of 5 primary peripheral blood leukocyte subsets including T cells, B cells, monocytes/macrophages, and neutrophils obtained from healthy individuals. A comparison of these methylomes(More)
BACKGROUND There is a paucity of published data on tissue Doppler imaging (TDI) in the critically ill. In a critically ill cohort, we studied the distribution of TDI and its correlation with other echocardiographic indices of preload. To aid hypothesis generation and sample size calculation, associations between echocardiographic variables, including the(More)
It is believed that increasing the X-factor (movement of the shoulders relative to the hips) during the golf swing can increase ball velocity at impact. Increasing the X-factor may also increase the risk of low back pain. The aim of this study was to provide recommendations for the three-dimensional (3D) measurement of the X-factor and lower trunk movement(More)
The aims of this study were (i) to determine whether significant three-dimensional (3D) trunk kinematic differences existed between a driver and a five-iron during a golf swing; and (ii) to determine the anthropometric, physiological, and trunk kinematic variables associated with clubhead speed. Trunk range of motion and golf swing kinematic data were(More)
AIMS AND OBJECTIVES To describe the recovery of trauma intensive care patients up to six months posthospital discharge. BACKGROUND Injury is a leading cause of preventable mortality and morbidity worldwide, with approximately 10% of hospitalised trauma patients being admitted to intensive care. Intensive care patients experience significant ongoing(More)