996 resultados para Polymorphism for ancestry-admixture mapping


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Interview tips developed by Lois Smidt with Beyond Welfare in Ames, Iowa and shared at the Improving Transition Outcomes Resource Mapping Workshops

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Information shared at the Improving Transition Outcomes Resource Mapping Workshops

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Information about Improving Transition Outcomes statewide resource mapping product.

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Introdução Hoje em dia, o conceito de ontologia (Especificação explícita de uma conceptualização [Gruber, 1993]) é um conceito chave em sistemas baseados em conhecimento em geral e na Web Semântica em particular. Entretanto, os agentes de software nem sempre concordam com a mesma conceptualização, justificando assim a existência de diversas ontologias, mesmo que tratando o mesmo domínio de discurso. Para resolver/minimizar o problema de interoperabilidade entre estes agentes, o mapeamento de ontologias provou ser uma boa solução. O mapeamento de ontologias é o processo onde são especificadas relações semânticas entre entidades da ontologia origem e destino ao nível conceptual, e que por sua vez podem ser utilizados para transformar instâncias baseadas na ontologia origem em instâncias baseadas na ontologia destino. Motivação Num ambiente dinâmico como a Web Semântica, os agentes alteram não só os seus dados mas também a sua estrutura e semântica (ontologias). Este processo, denominado evolução de ontologias, pode ser definido como uma adaptação temporal da ontologia através de alterações que surgem no domínio ou nos objectivos da própria ontologia, e da gestão consistente dessas alterações [Stojanovic, 2004], podendo por vezes deixar o documento de mapeamento inconsistente. Em ambientes heterogéneos onde a interoperabilidade entre sistemas depende do documento de mapeamento, este deve reflectir as alterações efectuadas nas ontologias, existindo neste caso duas soluções: (i) gerar um novo documento de mapeamento (processo exigente em termos de tempo e recursos computacionais) ou (ii) adaptar o documento de mapeamento, corrigindo relações semânticas inválidas e criar novas relações se forem necessárias (processo menos existente em termos de tempo e recursos computacionais, mas muito dependente da informação sobre as alterações efectuadas). O principal objectivo deste trabalho é a análise, especificação e desenvolvimento do processo de evolução do documento de mapeamento de forma a reflectir as alterações efectuadas durante o processo de evolução de ontologias. Contexto Este trabalho foi desenvolvido no contexto do MAFRA Toolkit1. O MAFRA (MApping FRAmework) Toolkit é uma aplicação desenvolvida no GECAD2 que permite a especificação declarativa de relações semânticas entre entidades de uma ontologia origem e outra de destino, utilizando os seguintes componentes principais: Concept Bridge – Representa uma relação semântica entre um conceito de origem e um de destino; Property Bridge – Representa uma relação semântica entre uma ou mais propriedades de origem e uma ou mais propriedades de destino; Service – São aplicados às Semantic Bridges (Property e Concept Bridges) definindo como as instâncias origem devem ser transformadas em instâncias de destino. Estes conceitos estão especificados na ontologia SBO (Semantic Bridge Ontology) [Silva, 2004]. No contexto deste trabalho, um documento de mapeamento é uma instanciação do SBO, contendo relações semânticas entre entidades da ontologia de origem e da ontologia de destino. Processo de evolução do mapeamento O processo de evolução de mapeamento é o processo onde as entidades do documento de mapeamento são adaptadas, reflectindo eventuais alterações nas ontologias mapeadas, tentando o quanto possível preservar a semântica das relações semântica especificadas. Se as ontologias origem e/ou destino sofrerem alterações, algumas relações semânticas podem tornar-se inválidas, ou novas relações serão necessárias, sendo por isso este processo composto por dois sub-processos: (i) correcção de relações semânticas e (ii) processamento de novas entidades das ontologias. O processamento de novas entidades das ontologias requer a descoberta e cálculo de semelhanças entre entidades e a especificação de relações de acordo com a ontologia/linguagem SBO. Estas fases (“similarity measure” e “semantic bridging”) são implementadas no MAFRA Toolkit, sendo o processo (semi-) automático de mapeamento de ontologias descrito em [Silva, 2004]. O processo de correcção de entidades SBO inválidas requer um bom conhecimento da ontologia/linguagem SBO, das suas entidades e relações, e de todas as suas restrições, i.e. da sua estrutura e semântica. Este procedimento consiste em (i) identificar as entidades SBO inválidas, (ii) a causa da sua invalidez e (iii) corrigi-las da melhor forma possível. Nesta fase foi utilizada informação vinda do processo de evolução das ontologias com o objectivo de melhorar a qualidade de todo o processo. Conclusões Para além do processo de evolução do mapeamento desenvolvido, um dos pontos mais importantes deste trabalho foi a aquisição de um conhecimento mais profundo sobre ontologias, processo de evolução de ontologias, mapeamento etc., expansão dos horizontes de conhecimento, adquirindo ainda mais a consciência da complexidade do problema em questão, o que permite antever e perspectivar novos desafios para o futuro.

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Nyssomyia intermedia (Lutz & Neiva) and Nyssomyia neivai (Pinto) are morphologically very close and both present great variation in some structures. The objective of this study is a description of the variation among the females of these species in populations from the States of Minas Gerais and São Paulo. The morphological structures studied were the number of horizontal teeth in the cibarium and the number of rings and the shape of the terminal knob of the spermathecae. The spermatheca rings are significantly more numerous in N. intermedia than in N. neivai and the simple shape of the terminal knob predominated in both species. Regarding the cibarium, eight to eleven teeth have been found in both species, with up to twelve teeth in the latter. The number of horizontal teeth and the shape of the terminal knob of the spermathecae were variable throughout the populations of both species and all structures were polymorphic in the populations studied.

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Perceptual maps have been used for decades by market researchers to illuminatethem about the similarity between brands in terms of a set of attributes, to position consumersrelative to brands in terms of their preferences, or to study how demographic and psychometricvariables relate to consumer choice. Invariably these maps are two-dimensional and static. Aswe enter the era of electronic publishing, the possibilities for dynamic graphics are opening up.We demonstrate the usefulness of introducing motion into perceptual maps through fourexamples. The first example shows how a perceptual map can be viewed in three dimensions,and the second one moves between two analyses of the data that were collected according todifferent protocols. In a third example we move from the best view of the data at the individuallevel to one which focuses on between-group differences in aggregated data. A final exampleconsiders the case when several demographic variables or market segments are available foreach respondent, showing an animation with increasingly detailed demographic comparisons.These examples of dynamic maps use several data sets from marketing and social scienceresearch.

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AIMS/HYPOTHESIS: The molecular mechanisms of obesity-related insulin resistance are incompletely understood. Macrophages accumulate in adipose tissue of obese individuals. In obesity, monocyte chemoattractant protein-1 (MCP-1), a key chemokine in the process of macrophage accumulation, is overexpressed in adipose tissue. MCP-1 is an insulin-responsive gene that continues to respond to exogenous insulin in insulin-resistant adipocytes and mice. MCP-1 decreases insulin-stimulated glucose uptake into adipocytes. The A-2518G polymorphism in the distal regulatory region of MCP-1 may regulate gene expression. The aim of this study was to investigate the impact of this gene polymorphism on insulin resistance. METHODS: We genotyped the Ludwigshafen Risk and Cardiovascular Health (LURIC) cohort ( n=3307). Insulin resistance, estimated by homeostasis model assessment, and Type 2 diabetes were diagnosed in 803 and 635 patients respectively. RESULTS: Univariate analysis revealed that plasma MCP-1 levels were significantly and positively correlated with WHR ( p=0.011), insulin resistance ( p=0.0097) and diabetes ( p<0.0001). Presence of the MCP-1 G-2518 allele was associated with decreased plasma MCP-1 ( p=0.017), a decreased prevalence of insulin resistance (odds ratio [OR]=0.82, 95% CI: 0.70-0.97, p=0.021) and a decreased prevalence of diabetes (OR=0.80, 95% CI: 0.67-0.96, p=0.014). In multivariate analysis, the G allele retained statistical significance as a negative predictor of insulin resistance (OR=0.78, 95% CI: 0.65-0.93, p=0.0060) and diabetes (OR=0.80, 95% CI: 0.66-0.96, p=0.018). CONCLUSIONS/INTERPRETATION: In a large cohort of Caucasians, the MCP-1 G-2518 gene variant was significantly and negatively correlated with plasma MCP-1 levels and the prevalence of insulin resistance and Type 2 diabetes. These results add to recent evidence supporting a role for MCP-1 in pathologies associated with hyperinsulinaemia.

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A fast and reliable assay for the identification of dermatophyte fungi and nondermatophyte fungi (NDF) in onychomycosis is essential, since NDF are especially difficult to cure using standard treatment. Diagnosis is usually based on both direct microscopic examination of nail scrapings and macroscopic and microscopic identification of the infectious fungus in culture assays. In the last decade, PCR assays have been developed for the direct detection of fungi in nail samples. In this study, we describe a PCR-terminal restriction fragment length polymorphism (TRFLP) assay to directly and routinely identify the infecting fungi in nails. Fungal DNA was easily extracted using a commercial kit after dissolving nail fragments in an Na(2)S solution. Trichophyton spp., as well as 12 NDF, could be unambiguously identified by the specific restriction fragment size of 5'-end-labeled amplified 28S DNA. This assay enables the distinction of different fungal infectious agents and their identification in mixed infections. Infectious agents could be identified in 74% (162/219) of cases in which the culture results were negative. The PCR-TRFLP assay described here is simple and reliable. Furthermore, it has the possibility to be automated and thus routinely applied to the rapid diagnosis of a large number of clinical specimens in dermatology laboratories.

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An impaired glutathione (GSH) synthesis was observed in several multifactorial diseases, including schizophrenia and myocardial infarction. Genetic studies revealed an association between schizophrenia and a GAG trinucleotide repeat (TNR) polymorphism in the catalytic subunit (GCLC) of the glutamate cysteine ligase (GCL). Disease-associated genotypes of this polymorphism correlated with a decrease in GCLC protein expression, GCL activity and GSH content. To clarify consequences of a decreased GCL activity at the proteome level, three schizophrenia patients and three controls have been selected based on the GCLC GAG TNR polymorphism. Fibroblast cultures were obtained by skin biopsy and were challenged with tert-butylhydroquinone (t-BHQ), a substance known to induce oxidative stress. Proteome changes were analyzed by two dimensional gel electrophoresis (2-DE) and results revealed 10 spots that were upregulated in patients following t-BHQ treatment, but not in controls. Nine corresponding proteins could be identified by MALDI mass spectrometry and these proteins are involved in various cellular functions, including energy metabolism, oxidative stress response, and cytoskeletal reorganization. In conclusion, skin fibroblasts of subjects with an impaired GSH synthesis showed an altered proteome reaction in response to oxidative stress. Furthermore, the study corroborates the use of fibroblasts as an additional mean to study vulnerability factors of psychiatric diseases.

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Essential hypertension is a multifactorial disorder and is the main risk factor for renal and cardiovascular complications. The research on the genetics of hypertension has been frustrated by the small predictive value of the discovered genetic variants. The HYPERGENES Project investigated associations between genetic variants and essential hypertension pursuing a 2-stage study by recruiting cases and controls from extensively characterized cohorts recruited over many years in different European regions. The discovery phase consisted of 1865 cases and 1750 controls genotyped with 1M Illumina array. Best hits were followed up in a validation panel of 1385 cases and 1246 controls that were genotyped with a custom array of 14 055 markers. We identified a new hypertension susceptibility locus (rs3918226) in the promoter region of the endothelial NO synthase gene (odds ratio: 1.54 [95% CI: 1.37-1.73]; combined P=2.58 · 10(-13)). A meta-analysis, using other in silico/de novo genotyping data for a total of 21 714 subjects, resulted in an overall odds ratio of 1.34 (95% CI: 1.25-1.44; P=1.032 · 10(-14)). The quantitative analysis on a population-based sample revealed an effect size of 1.91 (95% CI: 0.16-3.66) for systolic and 1.40 (95% CI: 0.25-2.55) for diastolic blood pressure. We identified in silico a potential binding site for ETS transcription factors directly next to rs3918226, suggesting a potential modulation of endothelial NO synthase expression. Biological evidence links endothelial NO synthase with hypertension, because it is a critical mediator of cardiovascular homeostasis and blood pressure control via vascular tone regulation. This finding supports the hypothesis that there may be a causal genetic variation at this locus.

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This paper presents the assessment and mapping of the Ribeira Seca catchment, an insular Sahelian mountain region sensitive to desertification, located on the island of Santiago, Cabo Verde. Desertification is a threat to the global environment, representing a serious ecological problemin Cabo Verde. To successfully combat desertification, an evaluation of desertification consequences is required and the building of cartography of the sensitivity for arid and semi-arid ecosystems is required as a first step. The MEDALUS model was the basis for this study in which six quality indicators were used: climate, soil, vegetation, land management, erosion and social factors. Several parameters were defined for each indicator with weights varying between 1 (very low) and 2 (very high). The geometric mean of each of the six quality indicators was employed to produce a map of areas sensitive to desertification. The results of this study show that more than 50% of the watershed show clear evidence of becoming a desertified area.

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Research on judgment and decision making presents a confusing picture of human abilities. For example, much research has emphasized the dysfunctional aspects of judgmental heuristics, and yet, other findings suggest that these can be highly effective. A further line of research has modeled judgment as resulting from as if linear models. This paper illuminates the distinctions in these approaches by providing a common analytical framework based on the central theoretical premise that understanding human performance requires specifying how characteristics of the decision rules people use interact with the demands of the tasks they face. Our work synthesizes the analytical tools of lens model research with novel methodology developed to specify the effectiveness of heuristics in different environments and allows direct comparisons between the different approaches. We illustrate with both theoretical analyses and simulations. We further link our results to the empirical literature by a meta-analysis of lens model studies and estimate both human andheuristic performance in the same tasks. Our results highlight the trade-off betweenlinear models and heuristics. Whereas the former are cognitively demanding, the latterare simple to use. However, they require knowledge and thus maps of when andwhich heuristic to employ.

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Hazard mapping in mountainous areas at the regional scale has greatly changed since the 1990s thanks to improved digital elevation models (DEM). It is now possible to model slope mass movement and floods with a high level of detail in order to improve geomorphologic mapping. We present examples of regional multi-hazard susceptibility mapping through two Swiss case studies, including landslides, rockfall, debris flows, snow avalanches and floods, in addition to several original methods and software tools. The aim of these recent developments is to take advantage of the availability of high resolution DEM (HRDEM) for better mass movement modeling. Our results indicate a good correspondence between inventories of hazardous zones based on historical events and model predictions. This paper demonstrates that by adapting tools and methods issued from modern technologies, it is possible to obtain reliable documents for land planning purposes over large areas.

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This paper presents findings from a study investigating a firm s ethical practices along the value chain. In so doing we attempt to better understand potential relationships between a firm s ethical stance with its customers and those of its suppliers within a supply chain and identify particular sectoral and cultural influences that might impinge on this. Drawing upon a database comprising of 667 industrial firms from 27 different countries, we found that ethical practices begin with the firm s relationship with its customers, the characteristics of which then influence the ethical stance with the firm s suppliers within the supply chain. Importantly, market structure along with some key cultural characteristics were also found to exert significant influence on the implementation of ethical policies in these firms.