24 research outputs found
FireWatch: G.i.S. -assisted wireless sensor networks for forest fires
Traditional satellite and camera-based systems, are currently the predominant methods for detecting forest fires. Our study has identified that these systems lack immediacy as detected fires must gain some momentum before they are detected. In addition, they suffer from decreased accuracy especially during the night, where visibility is diminished. In this paper, we present FireWatch, a system that aims to overcome the aforementioned limitations by combining a number of technologies including Wireless Sensor Networks, Computer-supported Cooperative Work and Geographic Information Systems in a transparent manner. Compared to satellite and camera-based approaches, FireWatch is able to detect forest fires more accurately and forecast the forest fire danger more promptly. FireWatch is currently scheduled to be deployed at the Cypriot Department of Forests
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
The Deciphering Developmental Disorders Study presents independent research commissioned by the Health Innovation Challenge Fund (HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network.Peer reviewedPublisher PD
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Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
PURPOSE: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may be being routinely excluded by standard variant filtering pipelines. METHODS: We evaluated variants that were previously classified as pathogenic or likely pathogenic in ClinVar in known developmental disorder genes using exome sequence data from the Deciphering Developmental Disorders (DDD) study. RESULTS: Of these ClinVar pathogenic variants, 3.6% were identified among 13,462 DDD probands, and 1134/1352 (83.9%) had already been independently communicated to clinicians using DDD variant filtering pipelines as plausibly pathogenic. The remaining 218 variants failed consequence, inheritance, or other automated variant filters. Following clinical review of these additional variants, we were able to identify 112 variants in 107 (0.8%) DDD probands as potential diagnoses. CONCLUSION: Lower minor allele frequency (1 star) are good predictors of a previously identified variant being plausibly diagnostic for developmental disorders. However, around half of previously identified pathogenic variants excluded by automated variant filtering did not appear to be disease-causing, underlining the continued need for clinical evaluation of candidate variants as part of the diagnostic process
Using participatory design in the development of a language learning tool
Purpose This paper aims to demonstrate how participatory design methodologies can be used for the design of inter- active learning tools for children. Design/methodology/approach This paper presents the methodology employed for the design of a multimedia tool for teaching Greek to young children aged 6 to 12. The preliminary data collection included interviews, questionnaires and observations, whereas the actual design of the tool was carried out using a Participatory Design methodology which advocates a design approach that focuses on the intended user of the service or product, emphasising the active involve- ment of users throughout the design process. Findings The paper provides detailed information from each of the data collection techniques used. It also highlights the successes and difficulties in implementing participatory design in an e-learning context. Originality/value Although participatory design has been used in the design of other systems, it is rarely used as the design framework of learning applications. So the paper expands ones knowledge of implementing participatory design methodologies in learning
Assessment of Performance of Seismic Isolation System of Bolu Viaduct
The Bolu viaduct is a 2.3-km-long seismically isolated structure that was nearly complete when it was struck by the 1999 Duzce earthquake in Turkey. It suffered complete failure of the seismic isolation system and narrowly avoided total collapse due to excessive superstructure movement. This paper presents an evaluation of the design of the viaduct's seismic isolation system and an assessment of its performance in the Duzce earthquake. Evaluation of the seismic isolation system's design has revealed that it did not meet the requirements of the AASHTO Guide Specifications for Seismic Isolation Design. Analysis of the viaduct with motions scaled in accordance with the AASHTO Guide Specifications resulted in a displacement demand of 820 mm, which is far more than the 210 mm displacement capacity of the existing isolation system. Analysis of the viaduct for a simulated near-fault motion with characteristics consistent with the site conditions resulted in an isolation system displacement demand of 1,400 mm. This indicates that, even if the isolation system had been designed in compliance with the AASHTO, it would have still suffered damage in the earthquake
Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat
<p>Abstract</p> <p>Background</p> <p>The dystrophin glycoprotein complex is disrupted in Duchenne muscular dystrophy and many other neuromuscular diseases. The principal heterodimeric partner of dystrophin at the heart of the dystrophin glycoprotein complex in the main clinically affected tissues (skeletal muscle, heart and brain) is its distant relative, α-dystrobrevin. The α-dystrobrevin gene is subject to complex transcriptional and post-transcriptional regulation, generating a substantial range of isoforms by alternative promoter use, alternative polyadenylation and alternative splicing. The choice of isoform is understood, amongst other things, to determine the stoichiometry of syntrophins (and their ligands) in the dystrophin glycoprotein complex.</p> <p>Results</p> <p>We show here that, contrary to the literature, most α-dystrobrevin genes, including that of humans, encode three distinct syntrophin-binding sites, rather than two, resulting in a greatly enhanced isoform repertoire. We compare in detail the quantitative tissue-specific expression pattern of human and mouse α-dystrobrevin isoforms, and show that two major gene features (the novel syntrophin-binding site-encoding exon and the internal promoter and first exon of brain-specific isoforms α-dystrobrevin-4 and -5) are present in most mammals but specifically ablated in mouse and rat.</p> <p>Conclusion</p> <p>Lineage-specific mutations in the murids mean that the mouse brain has fewer than half of the α-dystrobrevin isoforms found in the human brain. Our finding that there are likely to be fundamental functional differences between the α-dystrobrevins (and therefore the dystrophin glycoprotein complexes) of mice and humans raises questions about the current use of the mouse as the principal model animal for studying Duchenne muscular dystrophy and other related disorders, especially the neurological aspects thereof.</p