996 resultados para tamanho do átrio esquerdo
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O objetivo do presente estudo foi analisar como a prevalência e a distribuição da cárie dentária influenciam o tamanho da amostra em levantamentos epidemiológicos, e os custos para sua realização. Foram utilizados dados de levantamentos realizados em escolares de 12 anos em Bauru nos anos de 1976, 1984, 1990, 1994 e 2001, e em Piracicaba nos anos de 2001 e 2005. Os tamanhos amostrais foram dimensionados considerando-se a média e o desvio padrão obtidos, fixando-se erro amostral em 1%, 2%, 5% e 10%. Os custos foram estimados considerando material permanente, de consumo e recursos humanos. Verificou-se aumento no tamanho das amostras em ambos os municípios, variando de 119 em 1976 para 1.118 em 2001 em Bauru, e de 954 em 2001 para 1.252 em 2005 em Piracicaba, considerando-se um erro amostral de 10%. Considerando-se diferentes erros amostrais, verificou-se o custo para o levantamento, sendo que o mesmo depende do quanto o pesquisador se permite errar em relação ao verdadeiro valor da média da população. Conclui-se que a diminuição da prevalência da cárie dentária determinou o aumento no tamanho das amostras e a elevação dos custos para realização dos levantamentos.
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Statistical approaches to evaluate higher order SNP-SNP and SNP-environment interactions are critical in genetic association studies, as susceptibility to complex disease is likely to be related to the interaction of multiple SNPs and environmental factors. Logic regression (Kooperberg et al., 2001; Ruczinski et al., 2003) is one such approach, where interactions between SNPs and environmental variables are assessed in a regression framework, and interactions become part of the model search space. In this manuscript we extend the logic regression methodology, originally developed for cohort and case-control studies, for studies of trios with affected probands. Trio logic regression accounts for the linkage disequilibrium (LD) structure in the genotype data, and accommodates missing genotypes via haplotype-based imputation. We also derive an efficient algorithm to simulate case-parent trios where genetic risk is determined via epistatic interactions.
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[Carl Oestreich]
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publ. by Fred. E. Kitziger
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Over 250 Mendelian traits and disorders, caused by rare alleles have been mapped in the canine genome. Although each disease is rare in the dog as a species, they are collectively common and have major impact on canine health. With SNP-based genotyping arrays, genome-wide association studies (GWAS) have proven to be a powerful method to map the genomic region of interest when 10-20 cases and 10-20 controls are available. However, to identify the genetic variant in associated regions, fine-mapping and targeted re-sequencing is required. Here we present a new approach using whole-genome sequencing (WGS) of a family trio without prior GWAS. As a proof-of-concept, we chose an autosomal recessive disease known as hereditary footpad hyperkeratosis (HFH) in Kromfohrl änder dogs. To our knowledge, this is the first time this family trio WGS-approach, has successfully been used to identify a genetic variant that perfectly segregates with a canine disorder. The sequencing of three Kromfohrl änder dogs from a family trio (an affected offspring and both its healthy parents) resulted in an average genome coverage of 9.2X per individual. After applying stringent filtering criteria for candidate causative coding variants, 527 single nucleotide variants (SNVs) and 15 indels were found to be homozygous in the affected offspring and heterozygous in the parents. Using the computer software packages ANNOVAR and SIFT to functionally annotate coding sequence differences and to predict their functional effect, resulted in seven candidate variants located in six different genes. Of these, only FAM83G:c155G>C (p.R52P) was found to be concordant in eight additional cases and 16 healthy Kromfohrl änder dogs.
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von Kreutzer
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Signatur des Originals: S 36/F03373
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Signatur des Originals: S 36/F05272
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Signatur des Originals: S 36/F06393
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Signatur des Originals: S 36/F08369