| 1. |
- Brownstein, Catherine A., et al.
(author)
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
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In: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
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Journal article (peer-reviewed)abstract
- Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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| 2. |
- Gu, Yaxiu, et al.
(author)
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Techno-economic analysis of a solar photovoltaic/thermal (PV/T) concentrator for building application in Sweden using Monte Carlo method
- 2018
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In: Energy Conversion and Management. - : Elsevier BV. - 0196-8904 .- 1879-2227. ; 165, s. 8-24
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Journal article (peer-reviewed)abstract
- The solar energy share in Sweden will grow up significantly in next a few decades. Such transition offers not only great opportunity but also uncertainties for the emerging solar photovoltaic/thermal (PV/T) technologies. This paper therefore aims to conduct a techno-economic evaluation of a reference solar PV/T concentrator in Sweden for building application. An analytical model is developed based on the combinations of Monte Carlo simulation techniques and multi energy-balance/financial equations, which takes into account of the integrated uncertainties and risks of various variables. In the model, 11 essential input variables, i.e. average daily solar irradiance, electrical/thermal efficiency, prices of electricity/heating, operation & management (OM) cost, PV/T capital cost, debt to equity ratio, interest rate, discount rate, and inflation rate, are considered, while the economic evaluation metrics, such as levelized cost of energy (LCOE), net present value (NPV), and payback period (PP), are primarily assessed. According to the analytical results, the mean values of LCOE, NPV and PP of the reference PV/T connector are observed at 1.27 SEK/kW h (0.127 €/kW h), 18,812.55 SEK (1881.255 €) and 10 years during its 25 years lifespan, given the project size at 10.37 m2 and capital cost at 4482–5378 SEK/m2 (448.2–537.8 €/m2). The positive NPV indicates that the investment on the selected PV/T concentrator will be profitable as the projected earnings exceeds the anticipated costs, depending on the NPV decision rule. The sensitivity analysis and the parametric study illustrate that the economic performance of the reference PV/T concentrator in Sweden is mostly proportional to solar irradiance, debt to equity ratio and heating price, but disproportionate to capital cost and discount rate. Together with additional market analysis of PV/T technologies in Sweden, it is expected that this paper could clarify the economic situation of PV/T technologies in Sweden and provide a useful model for their further investment decisions, in order to achieve sustainable and low-carbon economics, with an expanded quantitative discussion of the real economic or policy scenarios that may lead to those outcomes.
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| 3. |
- Yazdani-Asrami, Mohammad, et al.
(author)
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Roadmap on artificial intelligence and big data techniques for superconductivity
- 2023
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In: Superconductors Science and Technology. - : IOP Publishing. - 0953-2048 .- 1361-6668. ; 36:4, s. 043501-043501
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Journal article (peer-reviewed)abstract
- This paper presents a roadmap to the application of AI techniques and big data (BD) for different modelling, design, monitoring, manufacturing and operation purposes of different superconducting applications. To help superconductivity researchers, engineers, and manufacturers understand the viability of using AI and BD techniques as future solutions for challenges in superconductivity, a series of short articles are presented to outline some of the potential applications and solutions. These potential futuristic routes and their materials/technologies are considered for a 10–20 yr time-frame.
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