A unified data infrastructure to support large-scale rare disease research

The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing ("solving") rare diseases (RDs). The project aims to significantly increase the diagnostic success rate by co-analysing data from thousands of RD cases, including phenotypes, pedigrees, exome/genome sequencing and multi-omics data. Here we report on the data infrastructure devised and created to support this co-analysis. This infrastructure enables users to store, find, connect, and analyse data and metadata in a collaborative manner. Pseudonymised phenotypic and raw experimental data are submitted to the RD-Connect Genome-Phenome Analysis Platform and processed through standardised pipelines. Resulting files and novel produced omics data are sent to the European Genome-phenome Archive, which adds unique file identifiers and provides long-term storage and controlled access services. MOLGENIS "RD3" and Cafe Variome "Discovery Nexus" connect data and metadata and offer discovery services, and secure cloud-based "Sandboxes" support multi-party data analysis. This proven infrastructure design provides a blueprint for other projects that need to analyse large amounts of heterogeneous data.3. Good health and well-bein

MACHINERY SAFETY AND MAINTENANCE IN VIEW OF NEW STANDARDS

Nova direktiva o strojih – 2006/42/ES določa bistvene zdravstvene in varnostne zahteve za stroje. Konec leta 2009 je v veljavo stopil tudi novi standard EN ISO 13849-1, ki upošteva tudi vgrajene komponente hidravlične in pnevmatične pogonsko krmilne tehnike, in je nadomestil starejši standard EN 954-1. Pri zasnovi stroja analiziramo tveganja in kjer je potrebno sprejmemo dodatne varnostne ukrepe za zaščito operaterjev. Tveganja lahko znižamo z varno zasnovo, tehničnimi varnostnimi ukrepi in informiranjem uporabnikov o preostalih tveganjih. Med vzdrževalnimi deli na strojih, moramo preprečiti njihov zagon ali nevarno gibanje.The new Machinery Directive - 2006/42/EC defines essential health and safety requirements for machinery. At the end of 2009 came new standard EN ISO 13849-1 into force, which also includes integrated components of hydraulic and pneumatic power control techniques, and replaced the old standard EN 954-1. When designing a machine, the possible risks shall be analyzed and, where necessary, additional protective measures shall be taken to protect the operator from any hazards that may exist. Risk reduction can be achieved by means of safe design, technical protective measures and user information on residual risks. During maintenance work on machines, their start-up or dangerous movement needs to be prevented

The role of high performance computing

High Performance Computing (HPC) enables one to simulate the ever-more complex behaviour of systems, components and structures under various load scenarios. The nuclear energy sector exploits HPC in practically all domains: from research and education to improving nuclear power plant designs, safe operation of nuclear power plants, plant life management for safe long term operation, reducing probability of nuclear accidents and their mitigation.JRC.F.4-Innovative Technologies for Nuclear Reactor Safet

The role of High Performance Computing in the Nuclear Energy Sector

High Performance Computing (HPC) plays an ever increasing role in the today’s world. It enables one to model the behaviour of systems, components and structures under various load scenarios, perform complex simulations and test hypotheses. The nuclear energy sector exploits HPC in practically all domains: from research and education to improving nuclear power plant designs, safe operation of nuclear power plants, plant life management for safe long term operation, reducing probability of nuclear accidents and their mitigation. Furthermore, HPC is widely used by academia, research institutes, vendors and authorities. The current paper presents the basic reasons for ever increasing HPC use in the energy field. Evolution of the HPC resources both at the Institute for Energy and Transport (IET) of the Joint Research Centre of the European Commission and Jožef Stefan Institute (JSI), Slovenia, is given. Furthermore, the complexity of successfully setting up such compute resources and providing support to the end-users of the computing facilities is highlighted. The paper concludes with a number of examples of applications in nuclear energy sector and wider.JRC.F.4-Innovative Technologies for Nuclear Reactor Safet