947 resultados para exome capture


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The aim of this paper is the analysis of the Catalan economy (2001) with the use of a National Accounting Matrix with environmental accounts (NAMEA) for the Catalan economy with 2001 data. We will focus on the analysis of the emission multipliers and we will also analyse the impact of a 10% reduction in greenhouse emissions on emission multipliers. This emission-reduction percentage would bring the Catalan economy into compliance with the maximum emissions level allowed by the Kyoto Protocol. We consider three possible scenarios that would allow this goal to be met. First, we will simulate a 10% reduction in regional emissions and a 5% drop in the endogenous income of the multipliers' model (production, factorial and private income). Second, we will simulate a 10% reduction in emissions and a 10% increase in endogenous income. Finally, we will simulate a 10% reduction in emissions and a 5% increase in endogenous income. Additionally, we will analyse the decomposition of the emission multipliers into own effects, open effects and circular effects to capture the different channels of the emission generation process. Keywords: NAMEA, emission multipliers, Kyoto Protocol.

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Accurate diagnosis of Babesia bigemina infection, an economically important tick-transmitted protozoan parasite of cattle, is essential in the management of disease control and in epidemiological studies. The currentlyused methods of diagnosis are blood smear examination and serological tests which include agglutination and immunofluorescence tests. These testes have been used the fild but because they lack sensitivity and specificity, never and improved methods of diagnosis are being developed. The quantitative buffy coat (OBC) method, using microhaematocrit tubes and acridine orange staining allows rapid and quicker diagnosis of B. bigemina and other blood parasites compared to light microscopic examination of stained smears. Parasite specific monoclonal antibodies have been used in antigen/antibody capture enzymelinked immunosorbent assays with grater sensitivity and specificity than previously described serological tests. Similary, DNA probes, derived from a repetitive sequence of the B. bigemina genome, offer a method of detecting very small numbers of parasites which are undetectable by conventional microscopy. An extrachromosomal DNA element, present in all the tick-borne protozoan parasites so far tested, provides an accurate means of diferentiating mixed parasite populations in infected animals. These improved methods will greatly facilitate epidemiological studies.

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The objective of this paper is to identify the role of memory as a screening device in repeated contracts with asymmetric information in financial intermediation. We use an original dataset from the European Bank for Reconstruction and Development. We propose a simple empirical method to capture the role of memory using the client's reputation. Our results unambiguously isolate the dominant effect of memory on the bank's lending decisions over market factors in the case of established clients.

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We show that standard expenditure multipliers capture economy-wide effects of new government projects only when financing constraints are not binding. In actual policy making, however, new projects usually need financing. Under liquidity constraints, new projects are subject to two opposite effects: an income effect and a set of spending substitution effects. The former is the traditional, unrestricted, multiplier effect; the latter is the result of expenditure reallocation to upheld effective financing constraints. Unrestricted multipliers will therefore be, as a general rule, upward biased and policy designs based upon them should be reassessed in the light of the countervailing substitution effects.

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Phototropism is an adaptive response allowing plants to optimize photosynthetic light capture. This is achieved by asymmetric growth between the shaded and lit sides of the stimulated organ. In grass seedlings, the site of phototropin-mediated light perception is distinct from the site of bending; however, in dicotyledonous plants (e.g., Arabidopsis), spatial aspects of perception remain debatable. We use morphological studies and genetics to show that phototropism can occur in the absence of the root, lower hypocotyl, hypocotyl apex, and cotyledons. Tissue-specific expression of the phototropin1 (phot1) photoreceptor demonstrates that light sensing occurs in the upper hypocotyl and that expression of phot1 in the hypocotyl elongation zone is sufficient to enable a normal phototropic response. Moreover, we show that efficient phototropism occurs when phot1 is expressed from endodermal, cortical, or epidermal cells and that its local activation rapidly leads to a global response throughout the seedling. We propose that spatial aspects in the steps leading from light perception to growth reorientation during phototropism differ between grasses and dicots. These results are important to properly interpret genetic experiments and establish a model connecting light perception to the growth response, including cellular and morphological aspects.

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The Keller-Segel system has been widely proposed as a model for bacterial waves driven by chemotactic processes. Current experiments on E. coli have shown precise structure of traveling pulses. We present here an alternative mathematical description of traveling pulses at a macroscopic scale. This modeling task is complemented with numerical simulations in accordance with the experimental observations. Our model is derived from an accurate kinetic description of the mesoscopic run-and-tumble process performed by bacteria. This model can account for recent experimental observations with E. coli. Qualitative agreements include the asymmetry of the pulse and transition in the collective behaviour (clustered motion versus dispersion). In addition we can capture quantitatively the main characteristics of the pulse such as the speed and the relative size of tails. This work opens several experimental and theoretical perspectives. Coefficients at the macroscopic level are derived from considerations at the cellular scale. For instance the stiffness of the signal integration process turns out to have a strong effect on collective motion. Furthermore the bottom-up scaling allows to perform preliminary mathematical analysis and write efficient numerical schemes. This model is intended as a predictive tool for the investigation of bacterial collective motion.

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BACKGROUND: Modern theories define chronic pain as a multidimensional experience - the result of complex interplay between physiological and psychological factors with significant impact on patients' physical, emotional and social functioning. The development of reliable assessment tools capable of capturing the multidimensional impact of chronic pain has challenged the medical community for decades. A number of validated tools are currently used in clinical practice however they all rely on self-reporting and are therefore inherently subjective. In this study we show that a comprehensive analysis of physical activity (PA) under real life conditions may capture behavioral aspects that may reflect physical and emotional functioning.¦METHODOLOGY: PA was monitored during five consecutive days in 60 chronic pain patients and 15 pain-free healthy subjects. To analyze the various aspects of pain-related activity behaviors we defined the concept of PA 'barcoding'. The main idea was to combine different features of PA (type, intensity, duration) to define various PA states. The temporal sequence of different states was visualized as a 'barcode' which indicated that significant information about daily activity can be contained in the amount and variety of PA states, and in the temporal structure of sequence. This information was quantified using complementary measures such as structural complexity metrics (information and sample entropy, Lempel-Ziv complexity), time spent in PA states, and two composite scores, which integrate all measures. The reliability of these measures to characterize chronic pain conditions was assessed by comparing groups of subjects with clinically different pain intensity.¦CONCLUSION: The defined measures of PA showed good discriminative features. The results suggest that significant information about pain-related functional limitations is captured by the structural complexity of PA barcodes, which decreases when the intensity of pain increases. We conclude that a comprehensive analysis of daily-life PA can provide an objective appraisal of the intensity of pain.

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Campaign efforts by NGOs initially put conflict diamonds on the global radar screen in the late 1990s. In response, the Kimberley Process (KP), a negotiation forum between states, NGOs, and industry, was formed to discuss possible solutions to curb the trade in conflict diamonds. Less than three years later, a voluntary, global certification named the Kimberley Process Certification Scheme (KPCS) was adopted. The KPCS regulates the trade of rough diamonds by certifying all legitimate diamonds. This paper outlines the problem of conflict diamonds, how a global campaign raised awareness about the issue, and how the process of solution building unfolded in the KP. My analysis focuses on the diverse set of actors (NGOs, states, and industry) and their changing interactions over the course of the campaign and global regulation efforts. I conclude with several key lessons that capture important elements observed in this case study.

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We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by using available exome sequence data and CoNIFER (Copy Number Inference from Exome Reads). Compared to high-density SNP microarrays, our approach yielded ∼2× more smaller genic rare CNVs. We found that affected probands inherited more CNVs than did their siblings (453 versus 394, p = 0.004; odds ratio [OR] = 1.19) and that the probands' CNVs affected more genes (921 versus 726, p = 0.02; OR = 1.30). These smaller CNVs (median size 18 kb) were transmitted preferentially from the mother (136 maternal versus 100 paternal, p = 0.02), although this bias occurred irrespective of affected status. The excess burden of inherited CNVs among probands was driven primarily by sibling pairs with discordant social-behavior phenotypes (p < 0.0002, measured by Social Responsiveness Scale [SRS] score), which contrasts with families where the phenotypes were more closely matched or less extreme (p > 0.5). Finally, we found enrichment of brain-expressed genes unique to probands, especially in the SRS-discordant group (p = 0.0035). In a combined model, our inherited CNVs, de novo CNVs, and de novo single-nucleotide variants all independently contributed to the risk of autism (p < 0.05). Taken together, these results suggest that small transmitted rare CNVs play a role in the etiology of simplex autism. Importantly, the small size of these variants aids in the identification of specific genes as additional risk factors associated with ASD.

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El objetivo de esta investigación es aportar evidencia sobre las fuentes de las economías de aglomeración para el caso español. De todas las maneras posibles que se han tomado en la literatura para medir las economías de aglomeración, nosotros lo analizamos a partir de las decisiones de localización de las empresas manufactureras. La literatura reciente ha puesto de relieve que el análisis basado en la disyuntiva localización / urbanización (relaciones dentro de un mismo sector) no es suficiente para entender las economías de aglomeración. Sin embargo, las relaciones entre los diferentes sectores sí resultan significativas al examinar por qué las empresas que pertenecen a diferentes sectores se localizan unas al lado de las otras. Con esto en mente, intentamos explicar que relaciones entre diferentes sectores pueden explicar coaglomeración. Para ello, nos centramos en aquellas relaciones entre sectores definidos a partir de los mecanismos de aglomeración de Marshall, es decir, labor market, input sharing y knowledge spillovers. Trabajamos con el labor market pooling en la medida en que los dos sectores utilizan los mismos trabajadores (clasificación de ocupaciones). Con el segundo mecanismo de Marshall, input sharing, introducimos cómo dos sectores tienen una relación de comprador / vendedor. Por último, nos referimos a dos sectores que utilizan las mismas tecnologías en cuanto a los knowledge spillovers. Con el fin de capturar todos los efectos de los mecanismos de aglomeracion en España, en esta investigación trabajamos con dos ámbitos geográficos, los municipios y los mercados de trabajo locales. La literatura existente nunca se ha puesto de acuerdo en cual es el ámbito geográfico en el que mejor trabajan los mecanismos Marshall, por lo que hemos cubierto todas las unidades geográficas potenciales.

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En este trabajo se analiza la política petrolera mexicana durante el período 1938-2000 y su aportación al crecimiento económico mexicano. La orientación de la producción petrolera permite distinguir dos modelos de gestión de la industria petrolera. El primero de ellos; entre 1938-1976 tuvo por finalidad el aprovisionamiento energético del mercado interior a bajos precios. El segundo a partir de 1976 orientado hacia la exportación y la captura de la renta petrolera internacional. Esta ruptura en la política petrolera asociada constituye un caso interesante en sí mismo porque permite comparar los efectos de dos políticas totalmente opuestas sobre el crecimiento económico y sobre el desempeño de la propia industria petrolera en un país donde el Estado tiene derechos de propiedad exclusivos sobre el sector petrolero. Por ello, se aborda el tema como una problemática institucional que toma en cuenta tanto las características internas de México como la dinámica del mercado petrolero internacional. Se incide en el hecho de que el Estado mexicano ha utilizado a la industria petrolera y; concretamente los recursos que ésta genera no sólo como un instrumento para favorecer el crecimiento económico del país sino también para mantener el control del poder político frente a la élite económica. Así el inmovilismo institucional; la falta de ingresos e inversiones propias y el comportamiento rentista del Estado parecen haber condenado al sector petrolero mexicano al atraso y la ineficiencia. De este modo; se focaliza en las interrelaciones entre las instituciones económicas y políticas como elemento explicativo del por qué la industria petrolera no ha logrado convertirse en un elemento dinamizador del crecimiento económico mexicano en el largo plazo.

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El projecte consisteix en la captura de dades per mitjà del sistema GPS, mitjançant aquestes dades hem d'endevinar en quin vehicle ens desplacem per a portar el càlcul del consum del CO2 dels nostres desplaçaments. El programa ha estat desenvolupat per ser funcional a sobre de dispositius mòbils que tinguin targeta de memòria externa i Java J2ME, inclou interfície gràfica.

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L’objectiu d’aquest projecte és crear un sistema de seguiment d’una flota de vehicles amb GPS en temps real. A partir d’un mòdul de captació, el servidor recull la informació geogràfica dels vehicles i l’emmagatzema. I amb un mòdul de processament, es mostra i controla els vehicles, els punts d’interès i els polígons del sistema de Geofencing. En primer lloc, faig una introducció a l’estat de l’art dels sistemes de seguiment de vehicles. A continuació, analitzo els requeriments, especifico el comportament desitjat del sistema, explico el disseny i la implementació. Per últim, faig un seguit de proves per extreure’n les conclusions.

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Exogenous administration of glucocorticoids is a widely used and efficient tool to investigate the effects of elevated concentrations of these hormones in field studies. Because the effects of corticosterone are dose and duration-dependent, the exact course of plasma corticosterone levels after exogenous administration needs to be known. We tested the performance of self-degradable corticosterone pellets (implanted under the skin) in elevating plasma corticosterone levels. We monitored baseline (sampled within 3min after capture) total corticosterone levels and investigated potential interactions with corticosteroid-binding-globulin (CBG) capacity and the endogenous corticosterone response to handling in Eurasian kestrel Falco tinnunculus and barn owl Tyto alba nestlings. Corticosterone pellets designed for a 7-day-release in rodents elevated circulating baseline total corticosterone during only 2-3 days compared to placebo-nestlings. Highest levels occurred 1-2days after implantation and levels decreased strongly thereafter. CBG capacity was also increased, resulting in a smaller, but still significant, increase in baseline free corticosterone levels. The release of endogenous corticosterone as a response to handling was strong in placebo-nestlings, but absent 2 and 8 days after corticosterone pellet implantation. This indicates a potential shut-down of the hypothalamo-pituitary-adrenal axis after the 2-3 days of elevated baseline corticosterone levels. 20 days after pellet implantation, the endogenous corticosterone response to handling of nestlings implanted with corticosterone pellets attained similar levels as in placebo-nestlings. Self-degradable pellets proved to be an efficient tool to artificially elevate circulating baseline corticosterone especially in field studies, requiring only one intervention. The resulting peak-like elevation of circulating corticosterone, the concomitant elevation of CBG capacity, and the absence of an endogenous corticosterone response to an acute stressor have to be taken into account.

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During 1992-1994, 33 malaria cases were reported in two regions in Brazil where few sporadic atypical cases occur, most of them in home owners, who are weekenders, while home caretakers live there permanently. Indirect Fluorescent Antibody Test (IFAT), with Plasmodium vivax, and Enzime Linked Immunosorbent Assay (ELISA) with repeat peptides of the circumsporozoite (CS) proteins of the 3 known P. vivax variants and P. malarie/P. brasilianum, were performed on 277 sera, obtained within a 5 to 10 km range of malaria cases. Very rarely did any of these donors recall typical malaria episodes. Blood smears of all but 5 were negative. One of the 5 malaria cases included in our serology was of a home owner, 1 of a permanent resident, 3 from Superintendência de Controle de Endemias employees who went there to capture mosquitoes. In Region 1 the prevalence of IFAT positive sera was 73% and 28% among caretakers, 18% and 9.6% among home owners. In Region 2 (3 localities) no distinction was possible between caretakers and home owners, IFAT positivity being 38%, 28% and 7%. The relative percentage of positive anti-CS repeats ELISA, differed for each of the peptides among localities. Dwellings are in the vicinity of woods, where monkeys are frequently seen. The origin of these malaria cases, geographical differences and high seropositivity is discussed