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Systems used for target localization, such as goods, individuals, or animals, commonly rely on operational means to meet the final application demands. However, what would happen if some means were powered up randomly by harvesting systems? And what if those devices not randomly powered had their duty cycles restricted? Under what conditions would such an operation be tolerable in localization services? What if the references provided by nodes in a tracking problem were distorted? Moreover, there is an underlying topic common to the previous questions regarding the transfer of conceptual models to reality in field tests: what challenges are faced upon deploying a localization network that integrates energy harvesting modules? The application scenario of the system studied is a traditional herding environment of semi domesticated reindeer (Rangifer tarandus tarandus) in northern Scandinavia. In these conditions, information on approximate locations of reindeer is as important as environmental preservation. Herders also need cost-effective devices capable of operating unattended in, sometimes, extreme weather conditions. The analyses developed are worthy not only for the specific application environment presented, but also because they may serve as an approach to performance of navigation systems in absence of reasonably accurate references like the ones of the Global Positioning System (GPS). A number of energy-harvesting solutions, like thermal and radio-frequency harvesting, do not commonly provide power beyond one milliwatt. When they do, battery buffers may be needed (as it happens with solar energy) which may raise costs and make systems more dependent on environmental temperatures. In general, given our problem, a harvesting system is needed that be capable of providing energy bursts of, at least, some milliwatts. Many works on localization problems assume that devices have certain capabilities to determine unknown locations based on range-based techniques or fingerprinting which cannot be assumed in the approach considered herein. The system presented is akin to range-free techniques, but goes to the extent of considering very low node densities: most range-free techniques are, therefore, not applicable. Animal localization, in particular, uses to be supported by accurate devices such as GPS collars which deplete batteries in, maximum, a few days. Such short-life solutions are not particularly desirable in the framework considered. In tracking, the challenge may times addressed aims at attaining high precision levels from complex reliable hardware and thorough processing techniques. One of the challenges in this Thesis is the use of equipment with just part of its facilities in permanent operation, which may yield high input noise levels in the form of distorted reference points. The solution presented integrates a kinetic harvesting module in some nodes which are expected to be a majority in the network. These modules are capable of providing power bursts of some milliwatts which suffice to meet node energy demands. The usage of harvesting modules in the aforementioned conditions makes the system less dependent on environmental temperatures as no batteries are used in nodes with harvesters--it may be also an advantage in economic terms. There is a second kind of nodes. They are battery powered (without kinetic energy harvesters), and are, therefore, dependent on temperature and battery replacements. In addition, their operation is constrained by duty cycles in order to extend node lifetime and, consequently, their autonomy. There is, in turn, a third type of nodes (hotspots) which can be static or mobile. They are also battery-powered, and are used to retrieve information from the network so that it is presented to users. The system operational chain starts at the kinetic-powered nodes broadcasting their own identifier. If an identifier is received at a battery-powered node, the latter stores it for its records. Later, as the recording node meets a hotspot, its full record of detections is transferred to the hotspot. Every detection registry comprises, at least, a node identifier and the position read from its GPS module by the battery-operated node previously to detection. The characteristics of the system presented make the aforementioned operation own certain particularities which are also studied. First, identifier transmissions are random as they depend on movements at kinetic modules--reindeer movements in our application. Not every movement suffices since it must overcome a certain energy threshold. Second, identifier transmissions may not be heard unless there is a battery-powered node in the surroundings. Third, battery-powered nodes do not poll continuously their GPS module, hence localization errors rise even more. Let's recall at this point that such behavior is tight to the aforementioned power saving policies to extend node lifetime. Last, some time is elapsed between the instant an identifier random transmission is detected and the moment the user is aware of such a detection: it takes some time to find a hotspot. Tracking is posed as a problem of a single kinetically-powered target and a population of battery-operated nodes with higher densities than before in localization. Since the latter provide their approximate positions as reference locations, the study is again focused on assessing the impact of such distorted references on performance. Unlike in localization, distance-estimation capabilities based on signal parameters are assumed in this problem. Three variants of the Kalman filter family are applied in this context: the regular Kalman filter, the alpha-beta filter, and the unscented Kalman filter. The study enclosed hereafter comprises both field tests and simulations. Field tests were used mainly to assess the challenges related to power supply and operation in extreme conditions as well as to model nodes and some aspects of their operation in the application scenario. These models are the basics of the simulations developed later. The overall system performance is analyzed according to three metrics: number of detections per kinetic node, accuracy, and latency. The links between these metrics and the operational conditions are also discussed and characterized statistically. Subsequently, such statistical characterization is used to forecast performance figures given specific operational parameters. In tracking, also studied via simulations, nonlinear relationships are found between accuracy and duty cycles and cluster sizes of battery-operated nodes. The solution presented may be more complex in terms of network structure than existing solutions based on GPS collars. However, its main gain lies on taking advantage of users' error tolerance to reduce costs and become more environmentally friendly by diminishing the potential amount of batteries that can be lost. Whether it is applicable or not depends ultimately on the conditions and requirements imposed by users' needs and operational environments, which is, as it has been explained, one of the topics of this Thesis.

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In this paper we propose a method to estimate by maximum likelihood the divergence time between two populations, specifically designed for the analysis of nonrecurrent rare mutations. Given the rapidly growing amount of data, rare disease mutations affecting humans seem the most suitable candidates for this method. The estimator RD, and its conditional version RDc, were derived, assuming that the population dynamics of rare alleles can be described by using a birth–death process approximation and that each mutation arose before the split of a common ancestral population into the two diverging populations. The RD estimator seems more suitable for large sample sizes and few alleles, whose age can be approximated, whereas the RDc estimator appears preferable when this is not the case. When applied to three cystic fibrosis mutations, the estimator RD could not exclude a very recent time of divergence among three Mediterranean populations. On the other hand, the divergence time between these populations and the Danish population was estimated to be, on the average, 4,500 or 15,000 years, assuming or not a selective advantage for cystic fibrosis carriers, respectively. Confidence intervals are large, however, and can probably be reduced only by analyzing more alleles or loci.

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The nucleotide sequence of the human alpha-albumin gene, including 887 bp of the 5'-flanking region and 1311 bp of the 3-flanking region (24,454 in total), was determined from three overlapping lambda phage clones. The sequence spans 22,256 bp from the cap site to the polyadenylylation site, revealing a gene structure of 15 exons separated by 14 introns. The methionine initiation codon ATG is within exon 1; the termination codon TGA is within exon 14. Exon 15 is entirely untranslated and contains the polyadenylylation signal AATAAA. The deduced polypeptide chain is composed of a 21-amino-acid leader peptide, followed by 578 amino acids of the mature protein. There are seven repetitive DNA elements (Alu and Kpn) in the introns and 3-flanking region. The sizes of the 15 alpha-albumin exons match closely those of the albumin, alpha-fetoprotein, and vitamin D-binding protein genes. The exons are symmetrically placed within the three domains of the individual proteins, and they share a characteristic codon splitting pattern that is conserved among members of the gene family. The results provide strong evidence that alpha-albumin belongs to, and most likely completes with, the serum albumin gene family. Based on structural similarity, alpha-albumin appears to be most closely related to alpha-fetoprotein. The complete structure of this family of four tandemly linked genes provides a well-characterized approximately 200 kb locus in the 4q subcentromeric region of the human genome.

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Frequencies of meiotic configurations in cytogenetic stocks are dependent on chiasma frequencies in segments defined by centromeres, breakpoints, and telomeres. The expectation maximization algorithm is proposed as a general method to perform maximum likelihood estimations of the chiasma frequencies in the intervals between such locations. The estimates can be translated via mapping functions into genetic maps of cytogenetic landmarks. One set of observational data was analyzed to exemplify application of these methods, results of which were largely concordant with other comparable data. The method was also tested by Monte Carlo simulation of frequencies of meiotic configurations from a monotelodisomic translocation heterozygote, assuming six different sample sizes. The estimate averages were always close to the values given initially to the parameters. The maximum likelihood estimation procedures can be extended readily to other kinds of cytogenetic stocks and allow the pooling of diverse cytogenetic data to collectively estimate lengths of segments, arms, and chromosomes.

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Neste trabalho, foi proposta uma nova família de distribuições, a qual permite modelar dados de sobrevivência quando a função de risco tem formas unimodal e U (banheira). Ainda, foram consideradas as modificações das distribuições Weibull, Fréchet, half-normal generalizada, log-logística e lognormal. Tomando dados não-censurados e censurados, considerou-se os estimadores de máxima verossimilhança para o modelo proposto, a fim de verificar a flexibilidade da nova família. Além disso, um modelo de regressão locação-escala foi utilizado para verificar a influência de covariáveis nos tempos de sobrevida. Adicionalmente, conduziu-se uma análise de resíduos baseada nos resíduos deviance modificada. Estudos de simulação, utilizando-se de diferentes atribuições dos parâmetros, porcentagens de censura e tamanhos amostrais, foram conduzidos com o objetivo de verificar a distribuição empírica dos resíduos tipo martingale e deviance modificada. Para detectar observações influentes, foram utilizadas medidas de influência local, que são medidas de diagnóstico baseadas em pequenas perturbações nos dados ou no modelo proposto. Podem ocorrer situações em que a suposição de independência entre os tempos de falha e censura não seja válida. Assim, outro objetivo desse trabalho é considerar o mecanismo de censura informativa, baseado na verossimilhança marginal, considerando a distribuição log-odd log-logística Weibull na modelagem. Por fim, as metodologias descritas são aplicadas a conjuntos de dados reais.