5 resultados para Variant in site acceptor splicing consensus

em Aston University Research Archive


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We are interested in the annotation of knowledge which does not necessarily require a consensus. Scholarly debate is an example of such a category of knowledge where disagreement and contest are widespread and desirable, and unlike many Semantic Web approaches, we are interested in the capture and the compilation of these conflicting viewpoints and perspectives. The Scholarly Ontologies project provides the underlying formalism to represent this meta-knowledge, and we will look at ways to lighten the burden of its creation. After having described some particularities of this kind of knowledge, we introduce ClaimSpotter, our approach to support its ‘capture’, based on the elicitation of a number of recommendations which are presented for consideration to our annotators (or analysts), and give some elements of evaluation.

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Background - The PCK1 gene, encoding cytosolic phosphoenolpyruvate carboxykinase (PEPCKC), has previously been implicated as a candidate gene for type 2 diabetes (T2D) susceptibility. Rodent models demonstrate that over-expression of Pck1 can result in T2D development and a single nucleotide polymorphism (SNP) in the promoter region of human PCK1 (-232C/G) has exhibited significant association with the disease in several cohorts. Within the UK-resident South Asian population, T2D is 4 to 6 times more common than in indigenous white Caucasians. Despite this, few studies have reported on the genetic susceptibility to T2D in this ethnic group and none of these has investigated the possible effect of PCK1 variants. We therefore aimed to investigate the association between common variants of the PCK1 gene and T2D in a UK-resident South Asian population of Punjabi ancestry, originating predominantly from the Mirpur area of Azad Kashmir, Pakistan. Methods - We used TaqMan assays to genotype five tagSNPs covering the PCK1 gene, including the -232C/G variant, in 903 subjects with T2D and 471 normoglycaemic controls. Results - Of the variants studied, only the minor allele (G) of the -232C/G SNP demonstrated a significant association with T2D, displaying an OR of 1.21 (95% CI: 1.03 - 1.42, p = 0.019). Conclusion - This study is the first to investigate the association between variants of the PCK1 gene and T2D in South Asians. Our results suggest that the -232C/G promoter polymorphism confers susceptibility to T2D in this ethnic group.

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Building's construction activities, operation and demolition are increasingly recognised as a major source of environmental impact. One strategy for reducing such impacts is most widely known by the term Building Environmental Assessment (BEA). The research is an attempt to develop a new BEA scheme for residential buildings in Brunei which focussing on identifying BEA indicators that best suit for Brunei environment, social and economy. Studies show that Brunei residential sector needs urgent attention to transform its current consumption rate in more sustainable way. Recent launch of Brunei Green Building Council, mandatory energy efficiency guidelines and declaration of ambitious energy intensity reduction target, a new BEA scheme will help contribute sustainability target in residential sector. However the issues of developing a new BEA schemes using existing methods may face constraints in their effectiveness. In this regard, a consensus-forming technique-Delphi method-helps improve greater communication and gain consensus from experts in the construction industry through series of questionnaires. As a result, the final framework is produced comprises of 7 key categories and 37 applicable criteria that achieved high degree of consensus and importance.

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Purpose: Current conceptualisations of strategic flexibility and its antecedents are theory-driven, which has resulted in a lack of consensus. To summarise this domain the paper aims to develop and present an a priori conceptual model of the antecedents and outcomes of strategic flexibility. Discussion and insights into the conceptual model, and the relationships specified, are made through a novel qualitative empirical approach. The implications for further research and a framework for further theoretical development are presented. Design/methodology/approach: An exploratory qualitative research design is used applying multiple data collection techniques in a branch network of a large regional retailer in the UK. The development of strategic options and the complex relationship to strategic flexibility is investigated. Findings: The number and type of strategic options developed by managers impact on the degree of strategic flexibility and also on the ability of the firm to achieve competitive differentiation. Additionally, the type of strategic option implemented by managers is dependent on the competitive situation faced at a local level. Evidence of managers' limited perception of competition was identified based on their spatial embeddedness. Research limitations/implications: A single, in-depth case study was used. The data gathered is rich and appropriate for the exploratory approach adopted here. However, generalisability of the findings is limited. Practical implications: Strategic flexibility is rooted in the ability of front-line mangers to develop and implement strategic options; this in turn facilitates competitive differentiation. Originality/value: The research presented is unique in this domain on two accounts. First, theory is developed by presenting an a priori conceptual model, and testing through in-depth qualitative data gathering. Second, insights into strategic flexibility are presented through an examination of managerial cognition, resources and strategic option generation using cognitive mapping and laddering technique. © Emerald Group Publishing Limited.

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Ukraine's Orange Revolution in 2004 upset the consensus amongst political scientists about Ukrainian voter behaviour, challenging the notion of voter passivity. Careful pre-election planning that anticipated falsification of the ballot brought protesters to Kyiv rapidly. Sustained and overwhelming pressure from protesters eventually forced through constitutional and electoral reforms that led to the democratic resolution of the crisis.