980 resultados para Exome analysis


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Flexible information exchange is critical to successful design integration, but current top-down, standards-based and model-oriented strategies impose restrictions that are contradictory to this flexibility. In this paper we present a bottom-up, user-controlled and process-oriented approach to linking design and analysis applications that is more responsive to the varied needs of designers and design teams. Drawing on research into scientific workflows, we present a framework for integration that capitalises on advances in cloud computing to connect discrete tools via flexible and distributed process networks. Adopting a services-oriented system architecture, we propose a web-based platform that enables data, semantics and models to be shared on the fly. We discuss potential challenges and opportunities for the development thereof as a flexible, visual, collaborative, scalable and open system.

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Citizen Science projects are initiatives in which members of the general public participate in scientific research projects and perform or manage research-related tasks such as data collection and/or data annotation. Citizen Science is technologically possible and scientifically significant. However, although research teams can save time and money by recruiting general citizens to volunteer their time and skills to help data analysis, the reliability of contributed data varies a lot. Data reliability issues are significant to the domain of Citizen Science due to the quantity and diversity of people and devices involved. Participants may submit low quality, misleading, inaccurate, or even malicious data. Therefore, finding a way to improve the data reliability has become an urgent demand. This study aims to investigate techniques to enhance the reliability of data contributed by general citizens in scientific research projects especially for acoustic sensing projects. In particular, we propose to design a reputation framework to enhance data reliability and also investigate some critical elements that should be aware of during developing and designing new reputation systems.

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In order to obtain a more compact Superconducting Fault Current limiter (SFCL), a special geometry of core and AC coil is required. This results in a unique magnetic flux pattern which differs from those associated with conventional round core arrangements. In this paper the magnetic flux density within a Fault Current Limiter (FCL) is described. Both experimental and analytical approaches are considered. A small scale prototype of an FCL was constructed in order to conduct the experiments. This prototype comprises a single phase. The analysis covers both the steady state and the short-circuit condition. Simulation results were obtained using commercial software based on the Finite Element Method (FEM). The magnetic flux saturating the cores, leakage magnetic flux giving rise to electromagnetic forces and leakage magnetic flux flowing in the enclosing tank are computed.

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Process mining encompasses the research area which is concerned with knowledge discovery from information system event logs. Within the process mining research area, two prominent tasks can be discerned. First of all, process discovery deals with the automatic construction of a process model out of an event log. Secondly, conformance checking focuses on the assessment of the quality of a discovered or designed process model in respect to the actual behavior as captured in event logs. Hereto, multiple techniques and metrics have been developed and described in the literature. However, the process mining domain still lacks a comprehensive framework for assessing the goodness of a process model from a quantitative perspective. In this study, we describe the architecture of an extensible framework within ProM, allowing for the consistent, comparative and repeatable calculation of conformance metrics. For the development and assessment of both process discovery as well as conformance techniques, such a framework is considered greatly valuable.

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Power system operation and planning are facing increasing uncertainties especially with the deregulation process and increasing demand for power. Probabilistic power system stability assessment and probabilistic power system planning have been identified by EPRI as one of the important trends in power system operations and planning. Probabilistic small signal stability assessment studies the impact of system parameter uncertainties on system small disturbance stability characteristics. Researches in this area have covered many uncertainties factors such as controller parameter uncertainties and generation uncertainties. One of the most important factors in power system stability assessment is load dynamics. In this paper, composite load model is used to consider the uncertainties from load parameter uncertainties impact on system small signal stability characteristics. The results provide useful insight into the significant stability impact brought to the system by load dynamics. They can be used to help system operators in system operation and planning analysis.