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Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC).(More)
BACKGROUND Four- or five-option multiple choice questions (MCQs) are the standard in health-science disciplines, both on certification-level examinations and on in-house developed tests. Previous research has shown, however, that few MCQs have three or four functioning distractors. The purpose of this study was to investigate non-functioning distractors in(More)
Left ventricular mass (LVM) is a highly heritable trait and an independent risk factor for all-cause mortality. So far, genome-wide association studies have not identified the genetic factors that underlie LVM variation, and the regulatory mechanisms for blood-pressure-independent cardiac hypertrophy remain poorly understood. Unbiased systems genetics(More)
OBJECTIVE Social support and family ties are strong predictors of functional recovery after stroke; however, development of successful psychosocial intervention programs has been difficult. This study examined whether a family-systems intervention designed to influence social support and self-efficacy affects functional outcome in older stroke patients. (More)
Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These(More)
BACKGROUND Molecular genetic testing is recommended for diagnosis of inherited cardiac disease, to guide prognosis and treatment, but access is often limited by cost and availability. Recently introduced high-throughput bench-top DNA sequencing platforms have the potential to overcome these limitations. METHODOLOGY/PRINCIPAL FINDINGS We evaluated two(More)
Multiple-choice questions are a common assessment method in nursing examinations. Few nurse educators, however, have formal preparation in constructing multiple-choice questions. Consequently, questions used in baccalaureate nursing assessments often contain item-writing flaws, or violations to accepted item-writing guidelines. In one nursing department,(More)
PURPOSE The accurate interpretation of variation in Mendelian disease genes has lagged behind data generation as sequencing has become increasingly accessible. Ongoing large sequencing efforts present huge interpretive challenges, but they also provide an invaluable opportunity to characterize the spectrum and importance of rare variation. METHODS We(More)
In multiple-choice tests, four-option items are the standard in nursing education. There are few evidence-based reasons, however, for MCQs to have four or more options as studies have shown that three-option items perform equally as well and the additional options most often do not improve test reliability and validity. The aim of this study was to examine(More)
With the advent of affordable and comprehensive sequencing technologies, access to molecular genetics for clinical diagnostics and research applications is increasing. However, variant interpretation remains challenging, and tools that close the gap between data generation and data interpretation are urgently required. Here we present a transferable(More)