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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)
This paper reports the results of two studies investigating a disease-avoidance model of common animal fears. In Study 1, a factor analysis of a variety of self-rated animal fears revealed that these fears can be grouped into two theoretically meaningful categories which correspond to predatory animals and fear-relevant animals. Study 2 found a significant(More)
The purpose of this study was to determine the effects of heavy-resistance strength training on measures of bench press power (BPP) using absolute loads and seated shot put (SSP) performance. Twenty-four college men were measured for 1-RM bench press, BPP, and SSP before and after weight training twice weekly for 12 weeks. BPP was measured with free weights(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)
The purpose of this study was to determine the accuracy of predicting maximal bench press (BP) strength (1-RM) from relative endurance performance in various groups of men. The subjects included untrained students (n = 35), resistance trained students (n = 28), college wrestlers (n = 21), soccer players (n = 22), football players (n = 51), high school(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)
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)
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)
One Sentence Summary: Comparing the frequency of very rare variation between patient cohorts and very large genomic reference datasets enables the reliable re-evaluation of genes previously implicated in Mendelian disease and more accurate assessment of the likely pathogenicity of different classes of variants. Abstract: The accurate interpretation of(More)