Agrégation de prédicteurs pour des séries temporelles, optimalité dans un contexte localement stationnaire

This thesis regroups our results on dependent time series prediction. The work is divided into three main chapters where we tackle different problems. The first one is the aggregation of predictors of Causal Bernoulli Shifts using a Bayesian approach. The second one is the aggregation of predictors of what we define as sub-linear processes. Locally stationary time varying autoregressive processes receive a particular attention; we investigate an adaptive prediction scheme for them. In the last main chapter we study the linear regression problem for a general class of locally stationary processes.Cette thèse regroupe nos résultats sur la prédiction de séries temporelles dépendantes. Le document comporte trois chapitres principaux où nous abordons des problèmes différents. Le premier concerne l’agrégation de prédicteurs de décalages de Bernoulli Causales, en adoptant une approche Bayésienne. Le deuxième traite de l’agrégation de prédicteurs de ce que nous définissions comme processus sous-linéaires. Une attention particulaire est portée aux processus autorégressifs localement stationnaires variables dans le temps, nous examinons un schéma de prédiction adaptative pour eux. Dans le dernier chapitre nous étudions le modèle de régression linéaire pour une classe générale de processus localement stationnaires

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Altres ajuts: Generalitat de Catalunya, Departament de Salut; Generalitat de Catalunya, Departament d'Empresa i Coneixement i CERCA Program; Ministerio de Ciencia e Innovación; Instituto Nacional de Bioinformática; ELIXIR Implementation Studies (CNAG-CRG); Centro de Investigaciones Biomédicas en Red de Enfermedades Raras; Centro de Excelencia Severo Ochoa; European Regional Development Fund (FEDER).Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7%), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%)

Aggregation of time series predictors, optimality in a locally stationary context

Cette thèse regroupe nos résultats sur la prédiction de séries temporelles dépendantes. Le document comporte trois chapitres principaux où nous abordons des problèmes différents. Le premier concerne l’agrégation de prédicteurs de décalages de Bernoulli Causales, en adoptant une approche Bayésienne. Le deuxième traite de l’agrégation de prédicteurs de ce que nous définissions comme processus sous-linéaires. Une attention particulaire est portée aux processus autorégressifs localement stationnaires variables dans le temps, nous examinons un schéma de prédiction adaptative pour eux. Dans le dernier chapitre nous étudions le modèle de régression linéaire pour une classe générale de processus localement stationnaires.This thesis regroups our results on dependent time series prediction. The work is divided into three main chapters where we tackle different problems. The first one is the aggregation of predictors of Causal Bernoulli Shifts using a Bayesian approach. The second one is the aggregation of predictors of what we define as sub-linear processes. Locally stationary time varying autoregressive processes receive a particular attention; we investigate an adaptive prediction scheme for them. In the last main chapter we study the linear regression problem for a general class of locally stationary processes

Salmonella sp., Campylobacter sp., Escherichia coli. no setor avícola, bactérias que colocam em risco a segurança alimentar

Topic and scope: the implications of bacterium as external factors within food safety create effects that put the safety of poultry meat foods at risk, the investigation of the main bacterium such as Salmonella sp, Campylobacter and E. coli are of utmost importance, because they contribute to the mitigation of these microorganisms during the production chain. Characteristics: A literary review of scientific articles was carried out, with the interest of compiling information on topics pertinent to poultry products, external agents, outbreaks related to chicken consumption and the most common current strategies that reduce infections in the population. Findings: a growth in the consumption of poultry meat, where the need arises to guarantee a control of possible points of infection in the different parts of the poultry meat manufacturing, for the latter it is evidence of the effectiveness of the use of antibiotics, prebiotics and probiotics as food sanitation mechanisms. Conclusion: despite the advances in the investigation of pathogens and process improvements in the different stages of production, infections related to the consumption of chicken meat still persist.Tema y alcance: Las implicaciones de factores externos dentro de la seguridad alimentaria crea afectaciones que ponen en riesgo la inocuidad de los alimentos cárnicos avícolas, la investigación de las principales bacterias como Salmonella sp, Campylobacter sp y E. coli son de suma importancia, debido a que aportan para la mitigación de estos microorganismos durante la cadena de producción. Características: Se realizó una revisión literaria de artículos científicos, con el interés de recopilar información pertinente a los productos avícolas, agentes externos, brotes relacionados por consumo de pollo y estrategias actuales más comunes que reducen infecciones a la población. Hallazgos: un crecimiento en el consumo de carne de ave, donde surge la necesidad de garantizar un control de posibles puntos de infección en las diferentes partes de fabricación del cárnico avícola, para esto último se evidencia de la efectividad del uso de los antibióticos, prebióticos y probióticos como mecanismos de saneamientos del alimento. Conclusión: a pesar de los avances en la investigación de los patógenos y mejoramientos del proceso en las diferentes etapas de producción aún persisten infecciones referentes al consumo de carne de pollo.Tema e escopo: a segurança alimentar pode ser afetada pela presença de contaminantes em produtos agro-pecuários utilizados para consumo humano, fatores externos colocam em risco a segurança dos alimentos à base de carne de aves; As bactérias são um exemplo de agentes perigosos, pois quando inoculam produtos alimentícios, podem ocorrer surtos de doenças. Portanto, os estudos que investigam os microrganismos cau-sadores da contaminação dos alimentos são de extrema importância, pois fornecem resultados para mitigar e controlar principalmente as doenças digestivas. Características: foi realizada uma revisão literária de artigos científicos, com o interesse de coletar informações pertinentes focadas em produtos avícolas, agentes externos, surtos relacionados ao consumo de frango e as estratégias atuais mais comuns que reduzem infecções na população. Resultados: há um crescimento no consumo de produtos avícolas em todo o mundo, portanto, há a necessi-dade de identificar e controlar possíveis pontos de contaminação nos diferentes processos da cadeia avícola. Os sintomas das doenças transmitidas por produtos alimentícios oriundos da avicultura são semelhantes, vô-mitos, diarreia e dor abdominal são alguns exemplos e ocorrem independentemente da fonte de contaminação bacteriana. Salmonella sp., Campylobacter sp., Escherichia coli colocam a população em risco e é evidenciada em surtos em todo o mundo; para evitar a presença de bactérias, diferentes investigações relatam a eficiência do uso de antibióticos, prebióticos e probióticos. Conclusão: apesar dos avanços na investigação de patógenos e melhorias de processo nas diferentes etapas de produção, as infecções relacionadas ao consumo de carne de frango ainda persistem