Pfeffermann, Krieger e Rinott (1998) apresentaram uma metodologia para modelar processos de amostragem que pode ser utilizada para avaliar se este processo de amostragem é informativo. Neste cenário, as probabilidades de seleção da amostra são aproximadas por uma função polinomial dependendo das variáveis resposta e concomitantes. Nesta abordagem, nossa principal proposta é investigar a aplicação do teste de significância FBST (Full Bayesian Significance Test), apresentado por Pereira e Stern (1999), como uma ferramenta para testar a ignorabilidade amostral, isto é, para avaliar uma relação de significância entre as probabilidades de seleção da amostra e a variável resposta. A performance desta modelagem estatística é testada com alguns experimentos computacionais. / Pfeffermann, Krieger and Rinott (1998) introduced a framework for modeling sampling processes that can be used to assess if a sampling process is informative. In this setting, sample selection probabilities are approximated by a polynomial function depending on outcome and auxiliary variables. Within this framework, our main purpose is to investigate the application of the Full Bayesian Significance Test (FBST), introduced by Pereira and Stern (1999), as a tool for testing sampling ignorability, that is, to detect a significant relation between the sample selection probabilities and the outcome variable. The performance of this statistical modelling framework is tested with some simulation experiments.

O objetivo deste estudo é apresentar uma proposta de tradução, do francês para o português, de uma receita da obra Révélations Gastronomiques (1995) de Hervé This. A singularidade desta obra consiste na transmissão de explicações dos processos físico-químicos que acontecem durante o preparo de um prato e da indicação dos gestos, ações e operações que garantam o bom resultado da receita, em um texto expressivo marcado pela presença de metáforas, ritmo, humor e pelo emprego de termos da cozinha francesa. Adotamos a perspectiva funcionalista em nossa proposta de tradução e verificamos a aplicação da metodologia de Nord (1997) na análise dos fatores pragmáticos dos textos de partida e de chegada. Sustentamos que devemos privilegiar a transmissão dos conteúdos dos verbos especializados da cozinha para permitir sua compreensão e boa execução da receita pelo cozinheiro brasileiro não especializado. A descrição dos conteúdos se construirá a partir das definições presentes nas obras de referência escolhidas em nossa pesquisa. / The aim of this study is to present a translation proposal, from French to Portuguese, of a recipe in Révélations Gastronomiques (1995), written by Hervé This. The uniqueness of this work is providing explanations of chemical processes that occur during the preparation of a dish and indication of gestures, actions and operations that ensure the sucess of the recipe, in a text marked by the presence of significant metaphors, rhythm, humor and of french cooking terms. We adopt a functionalist perspective on our proposal to translate and verify the application of the methodology of Nord (1997) analysis of pragmatic factors in both source text and target text. We argue that our study should focus on the transmission of the content of specialized cooking verbs to allow their understanding by the Brazilian receiver in order to succeed the recipe preparation as described in the source text. The description of the contents will be built from the definitions in the works of reference chosen in our research.

O lúpus eritematoso sistêmico (LES) é uma doença autoimune com forte componente genético, caracterizada por inflamação crônica e produção de autoanticorpos. O objetivo deste trabalho foi determinar o perfil de variação no número de cópias (CNVs) e de regiões de perda de heterozigose (LOH) na patogênese do LES. A detecção de CNVs e LOH foi feita pela metodologia Cytoscan HD array em pacientes com LES (n = 23) e indivíduos saudáveis (n = 110). Devido à formação tri-híbrida da população brasileira, foi desenvolvido e validado um painel de 345 marcadores informativos de ancestralidade, a partir dados provenientes do próprio array, para estimar as proporções de ancestralidade individual e, em última instância, inseri-las nos modelos de regressão logística como variável de controle nas análises de distribuição de CNVs e LOH. O perfil de CNVs evidenciou que o número e o tamanho de duplicações são maiores nos indivíduos saudáveis do que nos pacientes com LES. Duplicações nos genes FCGR3B e ADAM3A foram descritas como fator de proteção ao LES, quando tais genes foram avaliados por PCR quantitativa em maior grupo amostral de pacientes (n = 135) e controles (n = 200). Além disso, mostrou-se o efeito sinérgico da presença da deleção em ambos os loci FCGR3B e ADAM3A no aumento do risco para desenvolver a doença. Deleções em pacientes com LES envolvendo os genes CFHR4, CFHR5 e HLA-DPB2, previamente descritos em associação com o LES na literatura, foram identificadas por array e confirmadas por PCR digital. O protocolo desenvolvido para identificação de variantes raras, resultou em um conjunto de 21 CNVs raras em pacientes com LES. Em relação às regiões de perda de heterozigose, não foram encontradas evidências de que o número médio e a extensão dos segmentos LOH seja diferente entre pacientes e indivíduos saudáveis. No entanto, os cromossomos 6 e 12 em pacientes exibem regiões de perda de heterozigose em maior quantidade e tamanho do que os de indivíduos saudáveis, além de apresentarem 17 segmentos LOH restritos ao grupo de pacientes com LES. Os resultados aqui descritos evidenciam que novos loci de susceptibilidade ao LES podem ser encontrados quando a distribuição de CNVs é analisada em todo o genoma, em que a investigação de sua relação com a patogênese pode contribuir para a compreensão da base genética da doença. / Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic background characterized by chronic inflammation and autoantibody production. The purpose of this study was to determine the copy number variation (CNV) and loss of heterozygosity (LOH) profiles in the susceptibility to SLE. The detection of CNVs and LOH was performed by the Cytoscan HD array methodology in SLE patients (n = 23) and healthy subjects (n = 110). Due to the tri-hybrid composition of the Brazilian population, a panel of 345 ancestral informative markers was developed and validated, based on data from the array itself, to estimate the proportions of individual ancestry and, ultimately, to insert them into the logistic regression models as a control variable in the analysis of CNV and LOH distribution. The CNVs profile showed that the burden and the size of duplications are higher in healthy individuals than in SLE patients. Duplications in FCGR3B and ADAM3A genes were described as a protective factor for SLE, when these genes were evaluated by quantitative PCR in a larger SLE (n = 135) and control (n = 200) groups. In addition, the synergistic effect of the presence of deletion in both FCGR3B and ADAM3A loci increase the risk of developing the disease. Deletions in SLE patients encompassing the CFHR4, CFHR5 and HLA-DPB2 genes, previously described in the literature in association to SLE, were identified by the array and confirmed by droplet digital PCR. The pipeline developed here for the identification of rare variants resulted in a set of 21 rare CNVs in SLE patients. Regarding the loss of heterozygosity regions, no evidence was found that the mean number and extent of LOH segments is different between patients and healthy individuals. However, the chromosomes 6 and 12 in SLE patients exhibit greater quantity and size of LOH than those of healthy individuals, besides showing 17 LOH segments restricted to the group of SLE. The results described here show that novel susceptibility loci to SLE can be found once the distribution of variants is analyzed throughout the genome, in which the investigation of its relation to the pathogenesis may contribute to the understanding of the genetic basis of the disease.

Submitted by Geandra Rodrigues (geandrar@gmail.com) on 2018-04-03T12:16:13Z No. of bitstreams: 1 nathanefernandesdasilva.pdf: 1323851 bytes, checksum: cb5c61f17be31b12f65f8070909ca8ea (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2018-04-03T19:54:58Z (GMT) No. of bitstreams: 1 nathanefernandesdasilva.pdf: 1323851 bytes, checksum: cb5c61f17be31b12f65f8070909ca8ea (MD5) / Made available in DSpace on 2018-04-03T19:54:58Z (GMT). No. of bitstreams: 1 nathanefernandesdasilva.pdf: 1323851 bytes, checksum: cb5c61f17be31b12f65f8070909ca8ea (MD5) Previous issue date: 2018-06-30 / PROQUALI (UFJF) / Este estudo objetiva propor uma metodologia de mediação que seja voltada às necessidades da população brasileira, notadamente dos setores sociais que sofrem com a falta de acesso à justiça e que, consequentemente, tem reforçada sua condição de exclusão e de negação da cidadania. A partir de um conceito ampliado de acesso – o acesso à justiça pela via dos direitos – que compreende a efetividade de direitos e a participação na conformação do próprio direito, buscou-se evidenciar a carência deste acesso no Brasil, bem como demonstrar que o Poder Judiciário não tem conseguido ser instrumento para sua plena realização, designadamente para populações marginalizadas. Nesse contexto, acredita-se que a mediação possa ser um canal de ampliação do acesso à justiça via direitos para segmentos sociais vulnerabilizados – considerando, sobretudo, a questão do território para o fomento a um acesso à justiça democrático – desde que seja trabalhada em cenários não judiciários e que tenha sua metodologia reformulada, para que considere as peculiaridades da sociedade brasileira, dentre as quais se destaca a falta de acesso à informação e ao conhecimento. Assim, a proposta de mediação social informativa construída neste trabalho funda-se no compartilhamento da informação, fundamental para a realização de direitos, para a participação consciente e para a abordagem dos conflitos. Concretizou-se, enfim, um projeto de mediação voltado ao acesso à justiça pela via dos direitos que possa ser desenvolvido em espaços extrajudiciários, que intente minimizar a exclusão social e fortalecer a cidadania no Brasil. / This study aims to propose a methodology of mediation that is geared to the needs of the Brazilian population, especially the social sectors that suffer from lack of access to justice and, consequently, have reinforced their condition of exclusion and denial of citizenship. Based on an expanded concept of access – access to justice by means of rights – which encompasses the effectiveness of rights and participation in the conformation of the law itself, the aim was to highlight the lack of access in Brazil, as well as demonstrate that Judiciary has not been able to be an instrument for its full realization, especially for marginalized populations. In this context, it is believed that mediation can be a channel for expanding access to justice through rights for vulnerable social segments – considering, above all, the issue of the territory to foster access to democratic justice – as long as it is worked out in non-judicial scenarios and that has its methodology reformulated, so that it considers the peculiarities of Brazilian society, among which the lack of access to information and knowledge stands out. Thus, the proposal of informative social mediation built on this study is based on the sharing of information, fundamental for the realization of rights, for conscious participation and for approaching conflicts. Finally, a mediation project aimed at access to justice by means of rights that can be developed in extrajudicial spaces, which seeks to minimize social exclusion and strengthen citizenship in Brazil, was finally implemented.

Esta investigación aborda las preferencias y estrategias informativas aplicadas en relación con la pandemia por la covid-19 de los millennials limeños en el uso de los espacios periodísticos digitales. En un primer momento se definen diversos conceptos acerca del periodismo digital y los usuarios, así como también la unión entre ambos. Posteriormente, esta investigación se centra en un contexto específico que se describe en la segunda parte de la investigación, para luego llegar a un análisis en el que a partir de la herramienta de la entrevista se logra un acercamiento a matices particulares de un grupo de millennials limeños en la que destaca que son una generación más visual a comparación de otras, ya que todos los entrevistados de este estudio afirmaron que las herramientas visuales les han agregado un valor informativo a sus búsquedas cuando han buscado información sobre la covid-19. / This research deals with some of the choices and informative strategies employed by Lima’s millennials in relation to the covid-19 pandemic and the use of digital journalistic spaces. In the first approach we try to define several notions and concepts regarding users and digital journalism, as much as the relation between both. The second approach deals with this research in a specific context described therein, to the finally reach a conclusive analysis in which using the interview technique we are able to achieve a closer look at certain specific characteristics of Lima’s millennials in which it stands out that they are a more visual generation compared to the rest, since all the interviewees in this study stated that visual tools have added an informative value to their searches when they have looked for information on covid-19. / Trabajo de investigación

This thesis deals with the design changes of the economic informative system of accounting projects of European Metrology Research Programme. The first part of this work describes the theoretical solutions related to the solved problems, in the second part the company is itroduced and also the problém analysis of the contemporary state. On the basis of made analyzes comes the suggestion of changes should be assured adequate level for cooperation with national and international research projects.

El presente trabajo de investigación evidencia el tratamiento informativo que los programas Sin Barreras y Reportaje Conadis, les dan a temas relacionados a la discapacidad. Cada programa aborda desde distintos puntos y bajo distintos formatos notas, crónicas o informes de ciudadanos de dicho sector de la población. En ese sentido, el estudio identifica y analiza cada uno de los componentes de estas piezas audiovisuales para identificar cómo el Estado informa sobre estos temas y a su vez cómo representa a las personas con discapacidad. / This research work shows the informative treatment that the programs Sin Barrera and Reportaje Conadis give to issues related to disability. Each program addresses notes, chronicles or reports from citizens of said sector of the population from different points and under different formats. In this sense, the study identifies and analyzes each of the components of these audiovisual pieces to identify how the State informs on these issues and in turn how it represents people with disabilities. / Tesis

All residents have an equal obligation to sort their waste correctly. Despite the fact that there are regulations regarding, for example, packaging, newspapers, etc. they end up in combustible waste anyway. Why is that so? This thesis will focus on how to design a sorting area in an efficient, informative and accessible way to make it easier for users to sort correctly. Based on methods and collected empirical data, a comprehensive picture was created of what problems exist and what solutions need to be addressed. With the help of studies and theories, a design proposal was created on how to facilitate the sorting area for users to sort correctly. / Alla invånare har lika mycket skyldighet att sortera sitt avfall rätt. Trots att det finns en lag på exempelvis förpackningar, tidningar etc. så hamnar dessa ändå i brännbart avfall. Varför är det så? Examensarbetet kommer att handla om hur man kan utforma avfallsutrymme på ett effektivt, informativt och lättillgängligt sätt för att underlätta för användarna att sortera rätt. Utifrån metoder och insamlad empiri skapades en helhetsbild om vilka problem som finns och vilka lösningar som behöver åtgärdas. Med hjälp av studier och teorier skapades ett gestaltningsförslag på hur man kan underlätta sorteringsytan för användarna att sortera rätt

<p>Ancestry is a complex and layered concept, but it must be operationalized for its objective use in genetic studies. Critical decisions in research analyses, clinical practice, and forensic investigations are based on genetic ancestry inference. For example, in genetic association studies for clinical and applied research, investigators may need to isolate one population of interest from a worldwide dataset to avoid false positive results, or in human identification, ancestry inferences can help reveal the identity of unknown DNA evidence by narrowing down a suspect list. Many studies seek to improve ancestry inference for these reasons. The research presented here offers valuable resources for exploring and improving genetic ancestry inference and intelligence toward identity. </p> <p>First, analyses with ‘big data’ in genomics is a resource-intensive task that requires optimization. Therefore, this research introduces a suite of automated Snakemake workflows, <em>Iliad</em>, that was developed to give the research community an easy-to-learn, hands-off computational tool for genomic data processing of multiple data formats. <em>Iliad</em> can be installed and run on a Google Cloud Platform remote server instance in less than 20 minutes when using the provided installation code in the ReadTheDocs documentation. The workflows support raw data processing from various genetic data types including microarray, sequence, and compressed alignment data, as well as performing micro-workflows on variant call format (VCF) files to merge data or lift over variant positions. When compared to a similar workflow, <em>Iliad </em>completed processing one sample’s raw paired-end sequence reads to a human-legible VCF file in 7.6 hours which was three-times faster than the other workflow. This suite of workflows is paramount towards building reference population panels from human whole-genome sequence (WGS) data which is useful in many research studies including imputation, ancestry estimation, and ancestry informative marker (AIM) discovery.</p> <p>Second, there are persistent challenges in ancestry inference for individuals of the Middle East, especially with the use of AIMs. This research demonstrates a population genomics study pertaining to the Middle East, novel population data from Lebanon (n=190), and an unsupervised genetic clustering approach with WGS data from the 1000 Genomes Project and Human Genome Diversity Project. These efforts for AIM discovery identified two single nucleotide polymorphisms (SNPs) based on their high allelic frequency differences between the Middle East and populations in Eurasia, namely Europe and South/Central Asia. These candidate AIMs were evaluated with the most current and comprehensive AIM panel to date, the VISAGE Enhanced Tool (ET), using an external validation set of Middle Eastern WGS data (n=137). Instead of relying on pre-defined biogeographic ancestry labels to confirm the accuracy of validation sample ancestry inference, this research produced a deep, unsupervised ADMIXTURE analysis on 3,469 worldwide WGS samples with nearly 2 million independent SNPs (r2 < 0.1) which provided a genetic “ground truth”. This resulted in 136/137 validation samples as Middle East and provided valuable insights toward reference samples with varying co-ancestries that ultimately affects the classification of admixed individuals. Novel deep learning methods, specifically variational autoencoders, were introduced for visualizing one hundred percent of the genetic variance found using these AIMS in an alternative method to PCA and presents distinct population clusters in a robust ancestry space that remains static for the projection of unknown samples to aid in ancestry inference and human identification. </p> <p>Third, this research delves into a craniofacial study that makes improvements toward key intelligence information about physical identity by exploring the relationship between dentition and facial morphology with an advanced phenotyping approach paired with robust dental parameters used in clinical practice. Cone-beam computed tomography (CBCT) imagery was used to analyze the hard and soft tissue of the face at the same time. Low-to-moderate partial correlations were observed in several comparisons of dentition and soft tissue segments. These results included partial correlations of: i) inter-molar width and soft tissue segments nearest the nasal aperture, the lower maxillary sinuses, and a portion of the upper cheek, and ii) of lower incisor inclination and soft tissue segments overlapping the mentolabial fold. These results indicate that helpful intelligence information, potentially leading towards identity in forensic investigations, may be present where hard tissue structures are manifested in an observable way as a soft tissue phenotype. This research was a valuable preliminary study that paves the way towards the addition of facial hard tissue structures in combination with external soft tissue phenotypes to advance fundamental facial genetic research. Thus, CBCT scans greatly add to the current facial imagery landscape available for craniofacial research and provide hard and soft tissue data, each with measurable morphological variation among individuals. When paired with genetic association studies and functional biological experiments, this will ultimately lead to a greater understanding of the intricate coordination that takes place in facial morphogenesis, and in turn, guide clinical orthodontists to better treatment modalities with an emphasis on personalized medicine. Lastly, it aids intelligence methodologies when applied within the field of forensic anthropology.</p>

In this work, we set the stage of a limited labelling budget and propose using a sample selector network to learn and select effective training samples, whose labels we would then acquire to train the target model performing the required machine learning task. We make the assumption that the sample features, the state of the target model and the training loss of the target model are informative for training the sample selector network. In addition, we approximate the state of the target model with its intermediate and final network outputs. We investigate if under a limited labelling budget, the sample selector network is capable of learning and selecting training samples that train the target model at least as effectively as using another training subset of the same size that is uniformly randomly sampled from the full training dataset, the latter being the common procedure used to train machine learning models without active learning. We refer to this common procedure as the traditional machine learning uniform random sampling method. We perform experiments on the MNIST and CIFAR-10 datasets; and demonstrate with empirical evidence that under a constrained labelling budget and some other conditions, active learning using a sample selector network enables the target model to learn more effectively. / I detta arbete sätter vi steget i en begränsad märkningsbudget och föreslår att vi använder ett provväljarnätverk för att lära och välja effektiva träningsprover, vars etiketter vi sedan skulle skaffa för att träna målmodellen som utför den nödvändiga maskininlärningsuppgiften. Vi antar att provfunktionerna, tillståndet för målmodellen och utbildningsförlusten för målmodellen är informativa för att träna provväljarnätverket. Dessutom uppskattar vi målmodellens tillstånd med dess mellanliggande och slutliga nätverksutgångar. Vi undersöker om provväljarnätverket enligt en begränsad märkningsbudget kan lära sig och välja utbildningsprover som tränar målmodellen minst lika effektivt som att använda en annan träningsdel av samma storlek som är enhetligt slumpmässigt samplad från hela utbildningsdatasystemet, det senare är det vanliga förfarandet som används för att utbilda maskininlärningsmodeller utan aktivt lärande. Vi hänvisar till denna vanliga procedur som den traditionella maskininlärning enhetliga slumpmässig sampling metod. Vi utför experiment på datasätten MNIST och CIFAR-10; och visa med empiriska bevis att under en begränsad märkningsbudget och vissa andra förhållanden, aktivt lärande med hjälp av ett provvalnätverk gör det möjligt för målmodellen att lära sig mer effektivt.