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Numerous databases containing information about DNA, RNA, and protein variations are available. Gene-specific variant databases (locus-specific variation databases, LSDBs) are typically curated and maintained for single genes or groups of genes for a certain disease(s). These databases are widely considered as the most reliable information source for a particular gene/protein/disease, but it should also be made clear they may have widely varying contents, infrastructure, and quality. Quality is very important to evaluate because these databases may affect health decision-making, research, and clinical practice. The Human Variome Project (HVP) established a Working Group for Variant Database Quality Assessment. The basic principle was to develop a simple system that nevertheless provides a good overview of the quality of a database. The HVP quality evaluation criteria that resulted are divided into four main components: data quality, technical quality, accessibility, and timeliness. This report elaborates on the developed quality criteria and how implementation of the quality scheme can be achieved.
Numerous databases containing information about DNA, RNA, and protein variations are available. Gene-specific variant databases (locus-specific variation databases, LSDBs) are typically curated and maintained for single genes or groups of genes for a certain disease(s). These databases are widely considered as the most reliable information source for a particular gene/protein/disease, but it should also be made clear they may have widely varying contents, infrastructure, and quality. Quality is very important to evaluate because these databases may affect health decision-making, research, and clinical practice. The Human Variome Project (HVP) established a Working Group for Variant Database Quality Assessment. The basic principle was to develop a simple system that nevertheless provides a good overview of the quality of a database. The HVP quality evaluation criteria that resulted are divided into four main components: data quality, technical quality, accessibility, and timeliness. This report elaborates on the developed quality criteria and how implementation of the quality scheme can be achieved.
Industry is stepping into its 4.0 phase by implementing and increasingly relying on cyber-technological systems. Wider networks of sensors may allow for continuous monitoring of industrial process conditions. Enhanced computational power provides the capability of processing the collected “big data”. Early warnings can then be picked and lead to suggestion for proactive safety strategies or directly initiate the action of autonomous actuators ensuring the required level of system safety. But have we reached these safety 4.0 promises yet, or will we ever reach them? A traditional view on safety defines it as the absence of accidents and incidents. A forward-looking perspective on safety affirms that it involves ensuring that “as many things as possible go right”. However, in both the views there is an element of uncertainty associated to the prediction of future risks and, more subtly, to the capability of possessing all the necessary information for such prediction. This uncertainty does not simply disappear once we apply advanced artificial intelligence (AI) techniques to the infinite series of possible accident scenarios, but it can be found behind modelling choices and parameters setting. In a nutshell, any model claiming superior flexibility usually introduces extra assumptions (“there ain’t no such thing as a free lunch”). This contribution will illustrate a series of examples where AI techniques are used to continuously update the evaluation of the safety level in an industrial system. This will allow us to affirm that we are not even close to a “no-brainer” condition in which the responsibility for human and system safety is entirely moved to the machine. However, this shows that such advanced techniques are progressively providing a reliable support for critical decision making and guiding industry towards more risk-informed and safety-responsible planning.
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