Imputação múltipla livre de distribuição em tabelas incompletas de dupla entrada

O objetivo deste trabalho foi propor um novo algoritmo de imputação múltipla livre de distribuição, por meio de modificações no método de imputação simples recentemente desenvolvido por Yan para contornar o problema de desbalanceamento de experimentos. O método utiliza a decomposição por valores singulares de uma matriz e foi testado por meio de simulações baseadas em duas matrizes de dados reais completos, provenientes de ensaios com eucalipto e cana-de-açúcar, com retiradas aleatórias de valores em diferentes percentagens. A qualidade das imputações foi avaliada por uma medida de acurácia geral que combina a variância entre imputações e o viés quadrático médio delas em relação aos valores retirados. A melhor alternativa para imputação múltipla é um modelo multiplicativo que inclui pesos próximos a 1 para os autovalores calculados com a decomposição. A metodologia proposta não depende de pressuposições distribucionais ou estruturais e não tem restrições quanto ao padrão ou ao mecanismo de ausência dos dados

Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes

Limits to gauge coupling in the dark sector set by the non-observation of instanton-induced decay of Super-Heavy Dark Matter in the Pierre Auger Observatory data

We investigate instanton-induced decay processes of super-heavy dark matter particles $X$ produced during the inflationary epoch. Using data collected at the Pierre Auger Observatory we derive a bound on the reduced coupling constant of gauge interactions in the dark sector: $\alpha_X^{\rm eff} \lesssim 0.09$, for $10^{10} < M_X/{\rm GeV} < 10^{16}$. We show that this upper limit on $\alpha_X^{\rm eff}$ is complementary to that obtained from the non-observation of tensor modes in the cosmic microwave background

Limits to gauge coupling in the dark sector set by the non-observation of instanton-induced decay of Super-Heavy Dark Matter in the Pierre Auger Observatory data

We investigate instanton-induced decay processes of super-heavy dark matter particles $X$ produced during the inflationary epoch. Using data collected at the Pierre Auger Observatory we derive a bound on the reduced coupling constant of gauge interactions in the dark sector: $\alpha_X^{\rm eff} \lesssim 0.09$, for $10^{10} < M_X/{\rm GeV} < 10^{16}$. We show that this upper limit on $\alpha_X^{\rm eff}$ is complementary to that obtained from the non-observation of tensor modes in the cosmic microwave background

Limits to gauge coupling in the dark sector set by the non-observation of instanton-induced decay of Super-Heavy Dark Matter in the Pierre Auger Observatory data

We investigate instanton-induced decay processes of super-heavy dark matter particles $X$ produced during the inflationary epoch. Using data collected at the Pierre Auger Observatory we derive a bound on the reduced coupling constant of gauge interactions in the dark sector: $\alpha_X^{\rm eff} \lesssim 0.09$, for $10^{10} < M_X/{\rm GeV} < 10^{16}$. We show that this upper limit on $\alpha_X^{\rm eff}$ is complementary to that obtained from the non-observation of tensor modes in the cosmic microwave background

Limits to gauge coupling in the dark sector set by the non-observation of instanton-induced decay of Super-Heavy Dark Matter in the Pierre Auger Observatory data

We investigate instanton-induced decay processes of super-heavy dark matter particles $X$ produced during the inflationary epoch. Using data collected at the Pierre Auger Observatory we derive a bound on the reduced coupling constant of gauge interactions in the dark sector: $\alpha_X^{\rm eff} \lesssim 0.09$, for $10^{10} < M_X/{\rm GeV} < 10^{16}$. We show that this upper limit on $\alpha_X^{\rm eff}$ is complementary to that obtained from the non-observation of tensor modes in the cosmic microwave background